G47D (p.Gly47Asp) variant of KRT2 (P35908)
G47D (p.Gly47Asp) in KRT2 (P35908) 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 0.49 / 1. The record also includes population frequency data and structural context.
G47D (p.Gly47Asp) variant details
- p.Gly47Asp
- ESP rs139461169
- ExAC rs139461169
- TOPMed rs139461169
- gnomAD rs139461169
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.42
- CADD 21.40
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available