G79R (p.Gly79Arg) variant of KRT2 (P35908)
G79R (p.Gly79Arg) 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 0.33 / 1. The record also includes population frequency data and structural context.
G79R (p.Gly79Arg) variant details
- p.Gly79Arg
- 1000Genomes rs201527110
- TOPMed rs201527110
- gnomAD rs201527110
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.25
- CADD 15.20
- PolyPhen-2 0.02
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available