G133R (p.Gly133Arg) variant of KRT3 (Keratin, type II cytoskeletal 3)
G133R (p.Gly133Arg) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G133R (p.Gly133Arg) variant details
- p.Gly133Arg
- ExAC rs772649423
- gnomAD rs772649423
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.40
- CADD 18.10
- PolyPhen-2 0.95
- SIFT 0.22
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available