KLK7 p.Ser147=
c.441C>T · rs147827338 · VCV771933
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.01%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -3.9 | GERP -3.1 |
| Overall | ||
| CADD | 4.249 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.01%
Middle Eastern · 122/6,060 alleles
Filtering AF
1.72%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.61%
Overall
0.177%
2,849/1,613,952 alleles · low-frequency
exomes 2,607/1,461,762 · genomes 242/152,190 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 2.01% | 50 |
| Ashkenazi Jewishnot grpmax-eligible | 0.818% | 122 |
| Remaining individualsnot grpmax-eligible | 0.362% | 277 |
| Admixed American | 0.302% | 332 |
| South Asian | 0.208% | 482 |
| European (non-Finnish) | 0.149% | 671 |
| Finnishnot grpmax-eligible | 0.0953% | 1,049 |
| African / African-American | 0.0934% | 1,071 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- KLK7
- Protein
- p.Ser147=
- Coding
- c.441C>T
- MANE Select
- NM_005046
- dbSNP
- rs147827338
- Type
- single nucleotide variant
- Location
- chr19:50980268 (GRCh38)
- Structure
- AlphaFold pLDDT 91.72 · 21 PDB
- Residue 147
- the peptidase s1 domain; a β-strand
Similar variants
- KLK7 p.Thr153Met Uncertain significance ★★ ⚠ same type
- KLK6 p.Arg78Trp Benign ★★ ⚠ same type
- KLK7 p.Cys226= Benign ★★ same type
- KLK7 p.Pro208= Benign ★★ same type
- KLK7 p.Thr242Ile Benign ★★ same type
- KLK6 p.Ala101Thr Uncertain significance ★ ⚠ same type
- KLK6 p.Ala101Val Uncertain significance ★ ⚠ same type
- KLK6 p.Ala113Thr Uncertain significance ★ ⚠ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/klk7-p-ser147 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown