G40D (p.Gly40Asp) variant of KRT4 (Keratin, type II cytoskeletal 4)
G40D (p.Gly40Asp) 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 0.53 / 1. The record also includes population frequency data and structural context.
G40D (p.Gly40Asp) variant details
- p.Gly40Asp
- ExAC rs745806170
- TOPMed rs745806170
- gnomAD rs745806170
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.37
- CADD 22.80
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available