A27V (p.Ala27Val) variant of CYP27A1 (Q02318)
A27V (p.Ala27Val) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- gnomAD rs1159899670
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.24
- CADD 23.90
- PolyPhen-2 0.21
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available