L52V (p.Leu52Val) variant of CYP11B1 (P15538)
L52V (p.Leu52Val) in CYP11B1 (P15538) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
L52V (p.Leu52Val) variant details
- p.Leu52Val
- ExAC rs745709636
- gnomAD rs745709636
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- REVEL 0.13
- CADD 0.66
- PolyPhen-2 0.01
- SIFT 0.52
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available