R76G (p.Arg76Gly) variant of KRT3 (Keratin, type II cytoskeletal 3)
R76G (p.Arg76Gly) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R76G (p.Arg76Gly) variant details
- p.Arg76Gly
- ExAC rs762235173
- TOPMed rs762235173
- gnomAD rs762235173
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.21
- CADD 8.94
- PolyPhen-2 0.04
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available