R14R (p.Arg14Arg) variant of CYP27A1 (Q02318)
R14R (p.Arg14Arg) in CYP27A1 (Q02318) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R14R (p.Arg14Arg) variant details
- p.Arg14Arg
- gnomAD 2-218782222-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.339
- CADD 13.80
- Population evidence available
- Structural context available
- Literature evidence available