R18H (p.Arg18His) variant of CYP27A1 (Q02318)
R18H (p.Arg18His) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
R18H (p.Arg18His) variant details
- p.Arg18His
- gnomAD 2-218782235-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.12
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.60
- Most common in the Middle Eastern population (allele frequency 0.00023)
- Structural context available
- Literature evidence available