R18R (p.Arg18Arg) variant of CYP27A1 (Q02318)
R18R (p.Arg18Arg) in CYP27A1 (Q02318) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R18R (p.Arg18Arg) variant details
- p.Arg18Arg
- rs1301969299
- gnomAD 2-218782236-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 14.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available