D131N (p.Asp131Asn) variant of KRT13 (Keratin, type I cytoskeletal 13)
D131N (p.Asp131Asn) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
D131N (p.Asp131Asn) variant details
- p.Asp131Asn
- cosmic curated COSV55841
- TOPMed rs200792420
- gnomAD rs200792420
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.30
- CADD 22.40
- PolyPhen-2 0.20
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available