KIZ p.Pro452=
c.1356T>C · rs2514801341 · VCV2005845
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,449,644)
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 1.1 | GERP 3.6, phastCons 0.78 |
| Overall | ||
| CADD | 4.369 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,449,644). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- KIZ
- Protein
- p.Pro452=
- Coding
- c.1356T>C
- MANE Select
- NM_018474
- dbSNP
- rs2514801341
- Type
- single nucleotide variant
- Location
- chr20:21205494 (GRCh38)
- Gene constraint
- LOEUF 1.227 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 54.82
- Residue 452
- the 'disordered' region
Similar variants
- KIZ p.Pro452Ala Uncertain significance ★ ⚠ same residue
- KIZ c.1447-2A>G Likely pathogenic ★★ same type
- KIZ c.1612+2T>G Likely pathogenic ★★ same type
- KIZ p.Arg195Ter Pathogenic/Likely pathogenic ★★ same type
- KIZ p.Arg76Ter Pathogenic ★★ same type
- KIZ p.Gln199Ter Pathogenic/Likely pathogenic ★★ same type
- KIZ p.Gln22Ter Pathogenic/Likely pathogenic ★★ same type
- KIZ p.Glu18Ter Pathogenic/Likely pathogenic ★★ 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/kiz-p-pro452 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown