R46W (p.Arg46Trp) variant of KRT3 (Keratin, type II cytoskeletal 3)
R46W (p.Arg46Trp) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R46W (p.Arg46Trp) variant details
- p.Arg46Trp
- rs368389807
- ClinGen CA6588294
- ClinVar RCV003575892
- ClinVar RCV004369320
- Conflicting interpretations
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.27
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available