A29P (p.Ala29Pro) variant of CYP27A1 (Q02318)
A29P (p.Ala29Pro) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A29P (p.Ala29Pro) variant details
- p.Ala29Pro
- gnomAD 2-218782267-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.43
- CADD 23.40
- PolyPhen-2 0.27
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available