A52G (p.Ala52Gly) variant of KRT5 (Keratin, type II cytoskeletal 5)
A52G (p.Ala52Gly) in KRT5 (Keratin, type II cytoskeletal 5) 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.
A52G (p.Ala52Gly) variant details
- p.Ala52Gly
- ExAC rs773410009
- TOPMed rs773410009
- gnomAD rs773410009
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.07
- CADD 8.52
- PolyPhen-2 0.00
- SIFT 0.83
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available