G51S (p.Gly51Ser) variant of KRT3 (Keratin, type II cytoskeletal 3)
G51S (p.Gly51Ser) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G51S (p.Gly51Ser) variant details
- p.Gly51Ser
- gnomAD rs1352416793
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.15
- CADD 11.10
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available