R6S (p.Arg6Ser) variant of KRT16 (Keratin, type I cytoskeletal 16)
R6S (p.Arg6Ser) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R6S (p.Arg6Ser) variant details
- p.Arg6Ser
- ExAC rs752729625
- TOPMed rs752729625
- gnomAD rs752729625
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.21
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available