V8D (p.Val8Asp) variant of KRT4 (Keratin, type II cytoskeletal 4)
V8D (p.Val8Asp) in KRT4 (Keratin, type II cytoskeletal 4) 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 0.40 / 1. The record also includes population frequency data and structural context.
V8D (p.Val8Asp) variant details
- p.Val8Asp
- ExAC rs760017217
- TOPMed rs760017217
- gnomAD rs760017217
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.48
- CADD 22.50
- PolyPhen-2 0.22
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available