H48Y (p.His48Tyr) variant of CYP17A1 (P05093)
H48Y (p.His48Tyr) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
H48Y (p.His48Tyr) variant details
- p.His48Tyr
- rs2493245805
- ClinGen CA377940897
- ClinVar RCV002999014
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.29
- CADD 19.90
- PolyPhen-2 0.82
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available