R46Q (p.Arg46Gln) variant of KRT3 (Keratin, type II cytoskeletal 3)
R46Q (p.Arg46Gln) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R46Q (p.Arg46Gln) variant details
- p.Arg46Gln
- ExAC rs774042565
- TOPMed rs774042565
- gnomAD rs774042565
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.28
- CADD 0.60
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available