R19H (p.Arg19His) variant of KRT3 (Keratin, type II cytoskeletal 3)
R19H (p.Arg19His) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
R19H (p.Arg19His) variant details
- p.Arg19His
- rs376108603
- ClinGen CA6588316
- ClinVar RCV003551254
- ClinVar RCV004636765
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.08
- CADD 9.38
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available