A34D (p.Ala34Asp) variant of CYP27A1 (Q02318)
A34D (p.Ala34Asp) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A34D (p.Ala34Asp) variant details
- p.Ala34Asp
- gnomAD 2-218782283-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.40
- CADD 18.20
- PolyPhen-2 0.20
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available