G12R (p.Gly12Arg) variant of KRT3 (Keratin, type II cytoskeletal 3)
G12R (p.Gly12Arg) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- 1000Genomes rs546706676
- ExAC rs546706676
- TOPMed rs546706676
- gnomAD rs546706676
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0994
- REVEL 0.08
- CADD 8.58
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available