A3A (p.Ala3Ala) variant of CYP27A1 (Q02318)
A3A (p.Ala3Ala) 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.
A3A (p.Ala3Ala) variant details
- p.Ala3Ala
- rs971599666
- gnomAD 2-218782191-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.168
- CADD 12.40
- Population evidence available
- Structural context available
- Literature evidence available