A78V (p.Ala78Val) variant of KRT6B (Keratin, type II cytoskeletal 6B)
A78V (p.Ala78Val) in KRT6B (Keratin, type II cytoskeletal 6B) 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.
A78V (p.Ala78Val) variant details
- p.Ala78Val
- ExAC rs752774038
- TOPMed rs752774038
- gnomAD rs752774038
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.14
- CADD 6.83
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available