R14P (p.Arg14Pro) variant of CYP27A1 (Q02318)
R14P (p.Arg14Pro) in CYP27A1 (Q02318) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R14P (p.Arg14Pro) variant details
- p.Arg14Pro
- rs1224997517
- gnomAD 2-218782218-GCTGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 29.00
- Population evidence available
- Structural context available
- Literature evidence available