A398V (p.Ala398Val) variant of CYP17A1 (P05093)
A398V (p.Ala398Val) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Deficiency of steroid 17-alpha-monooxygenase; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
A398V (p.Ala398Val) variant details
- p.Ala398Val
- rs1315561755
- ClinGen CA377938517
- ClinVar RCV003468627
- ClinVar RCV003553985
- Likely pathogenic
- Deficiency of steroid 17-alpha-monooxygenase; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.55
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Deficiency of steroid 17-alpha-monooxygenase; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available