G12R (p.Gly12Arg) variant of KRT5 (Keratin, type II cytoskeletal 5)
G12R (p.Gly12Arg) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- ExAC rs751876144
- TOPMed rs751876144
- gnomAD rs751876144
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.10
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00038)
- Structural context available