Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.24%, afr)
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 0.99 | GERP 3.5, phastCons 0.009 |
| Overall | ||
| CADD | 6.766 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.24%
African / African-American · 934/75,048 alleles
Filtering AF
1.18%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.15%
Overall
0.0636%
1,026/1,614,184 alleles · low-frequency
exomes 504/1,461,860 · genomes 522/152,324 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.24% | 80 |
| Remaining individualsnot grpmax-eligible | 0.0688% | 1,454 |
| Admixed American | 0.0566% | 1,766 |
| Middle Eastern | 0.0495% | 2,021 |
| South Asian | 0.00329% | 30,361 |
| European (non-Finnish) | 0.000763% | 131,113 |
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
- KEL
- Protein
- p.Phe324=
- Coding
- c.972C>T
- MANE Select
- NM_000420
- dbSNP
- rs8175995
- Type
- single nucleotide variant
- Location
- chr7:142953909 (GRCh38)
- Gene constraint
- LOEUF 1.11 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.46
- Residue 324
- the peptidase m13 domain
Similar variants
- KEL p.Pro375Thr Uncertain significance ★★ ⚠ same type
- KEL p.Arg516= Benign ★★ same type
- KEL p.Leu335= Likely benign ★★ same type
- KEL p.Leu597Pro Benign ★★ same type
- KEL c.400+1G>A Pathogenic ★ same type
- KEL p.Ala148Gly Uncertain significance ★ ⚠ same type
- KEL p.Ala311Asp Uncertain significance ★ ⚠ same type
- KEL p.Ala311Val 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/kel-p-phe324 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown