A113T (p.Ala113Thr) variant of CYP17A1 (P05093)
A113T (p.Ala113Thr) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A113T (p.Ala113Thr) variant details
- p.Ala113Thr
- rs550594217
- ClinGen CA212294523
- ClinVar RCV003331801
- TOPMed rs550594217
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.55
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available