G75V (p.Gly75Val) variant of KRT17 (Keratin, type I cytoskeletal 17)
G75V (p.Gly75Val) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. Clinical records from ClinVar 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 0.20 / 1. The record also includes population frequency data and structural context.
G75V (p.Gly75Val) variant details
- p.Gly75Val
- ExAC rs760378776
- gnomAD rs760378776
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.15
- CADD 10.30
- PolyPhen-2 0.04
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available