N31S (p.Asn31Ser) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
N31S (p.Asn31Ser) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
N31S (p.Asn31Ser) variant details
- p.Asn31Ser
- TOPMed rs1819995143
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.12
- MetaLR 0.10
- MetaSVM -0.99
- CADD 10.20
- PolyPhen-2 0.01
- SIFT 0.67
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available