R14Q (p.Arg14Gln) variant of CYP27A1 (Q02318)
R14Q (p.Arg14Gln) 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 and structural context.
R14Q (p.Arg14Gln) variant details
- p.Arg14Gln
- Ensembl rs1325577166
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.11
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 2.1e-05)
- Structural context available