R76W (p.Arg76Trp) variant of KRT3 (Keratin, type II cytoskeletal 3)
R76W (p.Arg76Trp) 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 specified; not provided. 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.
R76W (p.Arg76Trp) variant details
- p.Arg76Trp
- rs762235173
- ClinGen CA6588271
- ClinVar RCV004259465
- ClinVar RCV006473967
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.18
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available