L37V (p.Leu37Val) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
L37V (p.Leu37Val) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L37V (p.Leu37Val) variant details
- p.Leu37Val
- ExAC rs762525937
- gnomAD rs762525937
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.35
- MetaLR 0.28
- MetaSVM -0.55
- CADD 24.90
- PolyPhen-2 0.60
- SIFT 0.18
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available