G61V (p.Gly61Val) variant of KRT1 (Keratin, type II cytoskeletal 1)
G61V (p.Gly61Val) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G61V (p.Gly61Val) variant details
- p.Gly61Val
- TOPMed rs1243164385
- gnomAD rs1243164385
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.80
- CADD 23.50
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available