A124D (p.Ala124Asp) variant of KRT13 (Keratin, type I cytoskeletal 13)
A124D (p.Ala124Asp) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A124D (p.Ala124Asp) variant details
- p.Ala124Asp
- Ensembl rs1567714641
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.39
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available