A124T (p.Ala124Thr) variant of KRT13 (Keratin, type I cytoskeletal 13)
A124T (p.Ala124Thr) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A124T (p.Ala124Thr) variant details
- p.Ala124Thr
- cosmic curated COSV55840
- ESP rs373485747
- ExAC rs373485747
- TOPMed rs373485747
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.34
- CADD 20.20
- PolyPhen-2 0.84
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available