P143S (p.Pro143Ser) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
P143S (p.Pro143Ser) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
P143S (p.Pro143Ser) variant details
- p.Pro143Ser
- gnomAD rs1340319542
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.84
- MetaLR 0.82
- MetaSVM 0.85
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available