A27G (p.Ala27Gly) variant of CYP27A1 (Q02318)
A27G (p.Ala27Gly) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A27G (p.Ala27Gly) variant details
- p.Ala27Gly
- gnomAD rs1159899670
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.20
- CADD 22.80
- PolyPhen-2 0.27
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available