A40V (p.Ala40Val) variant of CYP11B1 (P15538)
A40V (p.Ala40Val) in CYP11B1 (P15538) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- rs61752795
- gnomAD 8-142875325-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0997
- CADD 2.69
- Population evidence available
- Structural context available
- Literature evidence available