L99V (p.Leu99Val) variant of KRT13 (Keratin, type I cytoskeletal 13)
L99V (p.Leu99Val) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L99V (p.Leu99Val) variant details
- p.Leu99Val
- gnomAD rs1300151420
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.34
- CADD 23.90
- PolyPhen-2 0.88
- SIFT 0.02
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available