L141V (p.Leu141Val) variant of KRT13 (Keratin, type I cytoskeletal 13)
L141V (p.Leu141Val) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L141V (p.Leu141Val) variant details
- p.Leu141Val
- ExAC rs763056747
- gnomAD rs763056747
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.33
- CADD 20.10
- PolyPhen-2 0.68
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available