A121V (p.Ala121Val) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
A121V (p.Ala121Val) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A121V (p.Ala121Val) variant details
- p.Ala121Val
- ESP rs375807424
- ExAC rs375807424
- gnomAD rs375807424
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.29
- MetaLR 0.37
- MetaSVM -0.32
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available