R37W (p.Arg37Trp) variant of KRT5 (Keratin, type II cytoskeletal 5)
R37W (p.Arg37Trp) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R37W (p.Arg37Trp) variant details
- p.Arg37Trp
- rs370714132
- ClinGen CA6582929
- ClinVar RCV002508484
- ESP rs370714132
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.28
- CADD 23.10
- PolyPhen-2 0.25
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available