A29V (p.Ala29Val) variant of CYP11B1 (P15538)
A29V (p.Ala29Val) in CYP11B1 (P15538) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- cosmic curated COSV52824
- ExAC rs756034651
- gnomAD rs756034651
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.12
- CADD 4.18
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available