M24I (p.Met24Ile) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
M24I (p.Met24Ile) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
M24I (p.Met24Ile) variant details
- p.Met24Ile
- ExAC rs745869732
- TOPMed rs745869732
- gnomAD rs745869732
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.07
- MetaLR 0.13
- MetaSVM -0.97
- CADD 22.00
- PolyPhen-2 0.04
- SIFT 0.22
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available