A34A (p.Ala34Ala) variant of CYP27A1 (Q02318)
A34A (p.Ala34Ala) in CYP27A1 (Q02318) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A34A (p.Ala34Ala) variant details
- p.Ala34Ala
- rs773208703
- gnomAD 2-218782284-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.148
- CADD 9.48
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available
- Literature evidence available