A16R (p.Ala16Arg) variant of CYP27A1 (Q02318)
A16R (p.Ala16Arg) in CYP27A1 (Q02318) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A16R (p.Ala16Arg) variant details
- p.Ala16Arg
- rs1413976755
- gnomAD 2-218782224-AGG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.258
- CADD 25.00
- Population evidence available
- Structural context available
- Literature evidence available