G44S (p.Gly44Ser) variant of KRT3 (Keratin, type II cytoskeletal 3)
G44S (p.Gly44Ser) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G44S (p.Gly44Ser) variant details
- p.Gly44Ser
- ExAC rs751984274
- gnomAD rs751984274
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.30
- CADD 14.10
- PolyPhen-2 0.95
- SIFT 0.46
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available