V80M (p.Val80Met) variant of KRT1 (Keratin, type II cytoskeletal 1)
V80M (p.Val80Met) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V80M (p.Val80Met) variant details
- p.Val80Met
- gnomAD rs1336813635
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.30
- CADD 14.20
- PolyPhen-2 0.22
- SIFT 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available