G40R (p.Gly40Arg) variant of KRT3 (Keratin, type II cytoskeletal 3)
G40R (p.Gly40Arg) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G40R (p.Gly40Arg) variant details
- p.Gly40Arg
- 1000Genomes rs199902669
- ESP rs199902669
- ExAC rs199902669
- TOPMed rs199902669
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.27
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available