A30A (p.Ala30Ala) variant of CYP27A1 (Q02318)
A30A (p.Ala30Ala) in CYP27A1 (Q02318) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A30A (p.Ala30Ala) variant details
- p.Ala30Ala
- gnomAD 2-218782272-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.174
- CADD 13.20
- Population evidence available
- Structural context available
- Literature evidence available