A52E (p.Ala52Glu) variant of KRT5 (Keratin, type II cytoskeletal 5)
A52E (p.Ala52Glu) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A52E (p.Ala52Glu) variant details
- p.Ala52Glu
- ExAC rs773410009
- TOPMed rs773410009
- gnomAD rs773410009
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.13
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available