M1V (p.Met1Val) variant of KRT5 (Keratin, type II cytoskeletal 5)
M1V (p.Met1Val) in KRT5 (Keratin, type II cytoskeletal 5) 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 0.37 / 1. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1064793977
- ClinGen CA16619574
- ClinVar RCV000484793
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- MetaLR 0.28
- MetaSVM -0.62
- PolyPhen-2 0.16
- SIFT 0.03
- MutPred 0.96
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available