G5R (p.Gly5Arg) variant of CYP27A1 (Q02318)
G5R (p.Gly5Arg) in CYP27A1 (Q02318) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- gnomAD 2-218782185-G-GGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.459
- CADD 27.10
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available