G17R (p.Gly17Arg) variant of KRT10 (Keratin, type I cytoskeletal 10)
G17R (p.Gly17Arg) in KRT10 (Keratin, type I cytoskeletal 10) 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 0.48 / 1. The record also includes population frequency data.
G17R (p.Gly17Arg) variant details
- p.Gly17Arg
- ExAC rs754010566
- TOPMed rs754010566
- gnomAD rs754010566
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.39
- CADD 19.30
- PolyPhen-2 0.23
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)