S31Y (p.Ser31Tyr) variant of KRT6B (Keratin, type II cytoskeletal 6B)
S31Y (p.Ser31Tyr) in KRT6B (Keratin, type II cytoskeletal 6B) 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.
S31Y (p.Ser31Tyr) variant details
- p.Ser31Tyr
- ExAC rs749431471
- gnomAD rs749431471
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.14
- CADD 18.00
- PolyPhen-2 0.18
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available