R6S (p.Arg6Ser) variant of KRT14 (Keratin, type I cytoskeletal 14)
R6S (p.Arg6Ser) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R6S (p.Arg6Ser) variant details
- p.Arg6Ser
- ExAC rs766646368
- TOPMed rs766646368
- gnomAD rs766646368
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.39
- CADD 22.80
- PolyPhen-2 0.24
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available