A7G (p.Ala7Gly) variant of CYP27A1 (Q02318)
A7G (p.Ala7Gly) in CYP27A1 (Q02318) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A7G (p.Ala7Gly) variant details
- p.Ala7Gly
- rs1325993773
- gnomAD 2-218782201-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.246
- CADD 23.30
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available