A30V (p.Ala30Val) variant of CYP27A1 (Q02318)
A30V (p.Ala30Val) in CYP27A1 (Q02318) 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, published literature, and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- gnomAD 2-218782271-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.10
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available