A2A (p.Ala2Ala) variant of CYP27A1 (Q02318)
A2A (p.Ala2Ala) in CYP27A1 (Q02318) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs1265766070
- gnomAD 2-218782188-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.413
- CADD 14.90
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available