G48D (p.Gly48Asp) variant of KRT2 (P35908)
G48D (p.Gly48Asp) 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 0.48 / 1. The record also includes population frequency data and structural context.
G48D (p.Gly48Asp) variant details
- p.Gly48Asp
- TOPMed rs1363950058
- gnomAD rs1363950058
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.45
- CADD 18.70
- PolyPhen-2 0.42
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available