G95S (p.Gly95Ser) variant of KRT3 (Keratin, type II cytoskeletal 3)
G95S (p.Gly95Ser) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
G95S (p.Gly95Ser) variant details
- p.Gly95Ser
- rs749992146
- ClinGen CA6588255
- ClinVar RCV004255923
- ExAC rs749992146
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.17
- CADD 1.46
- PolyPhen-2 0.01
- SIFT 0.47
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available