G42G (p.Gly42Gly) variant of CYP27A1 (Q02318)
G42G (p.Gly42Gly) in CYP27A1 (Q02318) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G42G (p.Gly42Gly) variant details
- p.Gly42Gly
- rs1238340088
- gnomAD 2-218782308-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 8.36
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available