A96S (p.Ala96Ser) variant of KRT6B (Keratin, type II cytoskeletal 6B)
A96S (p.Ala96Ser) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A96S (p.Ala96Ser) variant details
- p.Ala96Ser
- ExAC rs769168555
- gnomAD rs769168555
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.21
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available