R30Q (p.Arg30Gln) variant of KRT17 (Keratin, type I cytoskeletal 17)
R30Q (p.Arg30Gln) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R30Q (p.Arg30Gln) variant details
- p.Arg30Gln
- rs2229512
- ClinGen CA8563853
- ClinVar RCV002966704
- 1000Genomes rs2229512
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.20
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Likely benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available