G17R (p.Gly17Arg) variant of CYP27A1 (Q02318)
G17R (p.Gly17Arg) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
G17R (p.Gly17Arg) variant details
- p.Gly17Arg
- gnomAD 2-218782231-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.19
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available