A29T (p.Ala29Thr) variant of CYP11B1 (P15538)
A29T (p.Ala29Thr) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Deficiency of steroid 11-beta-monooxygenase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
A29T (p.Ala29Thr) variant details
- p.Ala29Thr
- rs144224988
- cosmic curated COSV52825
- 1000Genomes rs144224988
- ESP rs144224988
- Uncertain significance
- Deficiency of steroid 11-beta-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.0992
- REVEL 0.13
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (Deficiency of steroid 11-beta-monooxygenase)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available