G17D (p.Gly17Asp) variant of CYP27A1 (Q02318)
G17D (p.Gly17Asp) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G17D (p.Gly17Asp) variant details
- p.Gly17Asp
- gnomAD 2-218782232-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.25
- CADD 17.10
- PolyPhen-2 0.11
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available