P61L (p.Pro61Leu) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
P61L (p.Pro61Leu) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P61L (p.Pro61Leu) variant details
- p.Pro61Leu
- TOPMed rs1232344451
- gnomAD rs1232344451
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.19
- MetaLR 0.17
- MetaSVM -0.84
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available