G95S (p.Gly95Ser) variant of KRT1 (Keratin, type II cytoskeletal 1)
G95S (p.Gly95Ser) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G95S (p.Gly95Ser) variant details
- p.Gly95Ser
- ExAC rs778385632
- gnomAD rs778385632
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.53
- CADD 6.74
- PolyPhen-2 0.44
- SIFT 0.23
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available