A12A (p.Ala12Ala) variant of CYP27A1 (Q02318)
A12A (p.Ala12Ala) in CYP27A1 (Q02318) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A12A (p.Ala12Ala) variant details
- p.Ala12Ala
- rs764764261
- gnomAD 2-218782218-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.288
- CADD 15.10
- Population evidence available
- Structural context available
- Literature evidence available