R19G (p.Arg19Gly) variant of KRT3 (Keratin, type II cytoskeletal 3)
R19G (p.Arg19Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R19G (p.Arg19Gly) variant details
- p.Arg19Gly
- rs570472655
- ClinGen CA6588318
- ClinVar RCV004111822
- 1000Genomes rs570472655
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.06
- CADD 5.45
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available