A96V (p.Ala96Val) variant of KRT6B (Keratin, type II cytoskeletal 6B)
A96V (p.Ala96Val) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A96V (p.Ala96Val) variant details
- p.Ala96Val
- gnomAD rs1219929936
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.18
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available