L153V (p.Leu153Val) variant of KRT10 (Keratin, type I cytoskeletal 10)
L153V (p.Leu153Val) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
L153V (p.Leu153Val) variant details
- p.Leu153Val
- rs61460100
- ClinGen CA216586
- ClinVar RCV000056492
- Ensembl rs61460100
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available