R19C (p.Arg19Cys) variant of KRT3 (Keratin, type II cytoskeletal 3)
R19C (p.Arg19Cys) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R19C (p.Arg19Cys) variant details
- p.Arg19Cys
- rs570472655
- NCI-TCGA Cosmic COSV5881
- 1000Genomes rs570472655
- ExAC rs570472655
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.09
- CADD 7.95
- PolyPhen-2 0.00
- SIFT 0.49
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available