D38E (p.Asp38Glu) variant of CYP27A1 (Q02318)
D38E (p.Asp38Glu) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
D38E (p.Asp38Glu) variant details
- p.Asp38Glu
- gnomAD 2-218782296-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0541
- REVEL 0.04
- CADD 0.05
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available