A115T (p.Ala115Thr) variant of CYP17A1 (P05093)
A115T (p.Ala115Thr) 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 0.53 / 1. The record also includes population frequency data and structural context.
A115T (p.Ala115Thr) variant details
- p.Ala115Thr
- rs1278456429
- ClinGen CA377940450
- cosmic curated COSV64004
- ClinVar RCV003067461
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.49
- CADD 23.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available