A78D (p.Ala78Asp) variant of KRT6B (Keratin, type II cytoskeletal 6B)
A78D (p.Ala78Asp) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A78D (p.Ala78Asp) variant details
- p.Ala78Asp
- ExAC rs752774038
- TOPMed rs752774038
- gnomAD rs752774038
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.15
- CADD 12.60
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available