R18G (p.Arg18Gly) variant of CYP27A1 (Q02318)
R18G (p.Arg18Gly) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R18G (p.Arg18Gly) variant details
- p.Arg18Gly
- gnomAD 2-218782234-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.16
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available