G55S (p.Gly55Ser) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G55S (p.Gly55Ser) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G55S (p.Gly55Ser) variant details
- p.Gly55Ser
- ESP rs374545789
- ExAC rs374545789
- TOPMed rs374545789
- gnomAD rs374545789
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.34
- CADD 19.60
- PolyPhen-2 0.07
- SIFT 0.13
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available