R8M (p.Arg8Met) variant of CYP27A1 (Q02318)
R8M (p.Arg8Met) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R8M (p.Arg8Met) variant details
- p.Arg8Met
- gnomAD 2-218782205-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.35
- CADD 25.30
- PolyPhen-2 0.84
- SIFT 0.07
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available