A40T (p.Ala40Thr) variant of CYP11B1 (P15538)
A40T (p.Ala40Thr) in CYP11B1 (P15538) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- rs1816902550
- gnomAD 8-142875326-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- CADD 3.63
- Population evidence available
- Structural context available
- Literature evidence available