A33V (p.Ala33Val) variant of CYP27A1 (Q02318)
A33V (p.Ala33Val) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- gnomAD rs1335202761
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.08
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available