A54D (p.Ala54Asp) variant of KRT6A (Keratin, type II cytoskeletal 6A)
A54D (p.Ala54Asp) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A54D (p.Ala54Asp) variant details
- p.Ala54Asp
- TOPMed rs1232527188
- gnomAD rs1232527188
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.33
- CADD 22.00
- PolyPhen-2 0.35
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available