A40A (p.Ala40Ala) variant of CYP27A1 (Q02318)
A40A (p.Ala40Ala) in CYP27A1 (Q02318) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A40A (p.Ala40Ala) variant details
- p.Ala40Ala
- rs150389057
- gnomAD 2-218782302-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0985
- CADD 2.52
- Most common in the HGDP:PAPUANHIGHLANDS population (allele frequency 0.25)
- Structural context available
- Literature evidence available