A29A (p.Ala29Ala) variant of CYP27A1 (Q02318)
A29A (p.Ala29Ala) in CYP27A1 (Q02318) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A29A (p.Ala29Ala) variant details
- p.Ala29Ala
- rs1310841339
- gnomAD 2-218782269-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 13.50
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available