A78V (p.Ala78Val) variant of KRT6A (Keratin, type II cytoskeletal 6A)
A78V (p.Ala78Val) in KRT6A (Keratin, type II cytoskeletal 6A) 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
- 1000Genomes rs557885841
- ExAC rs557885841
- TOPMed rs557885841
- gnomAD rs557885841
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.13
- CADD 5.02
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available