R21K (p.Arg21Lys) variant of CYP17A1 (P05093)
R21K (p.Arg21Lys) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Deficiency of steroid 17-alpha-monooxygenase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R21K (p.Arg21Lys) variant details
- p.Arg21Lys
- rs61754263
- ClinGen CA5669659
- ClinVar RCV000488920
- ClinVar RCV001249435
- Conflicting interpretations
- not provided; Deficiency of steroid 17-alpha-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.23
- CADD 0.71
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Deficiency of steroid 17-alpha-monooxygenase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available