A116V (p.Ala116Val) variant of KRT13 (Keratin, type I cytoskeletal 13)
A116V (p.Ala116Val) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
A116V (p.Ala116Val) variant details
- p.Ala116Val
- 1000Genomes rs201949656
- ExAC rs201949656
- TOPMed rs201949656
- gnomAD rs201949656
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.90
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available