A12G (p.Ala12Gly) variant of CYP27A1 (Q02318)
A12G (p.Ala12Gly) in CYP27A1 (Q02318) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A12G (p.Ala12Gly) variant details
- p.Ala12Gly
- gnomAD 2-218782213-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.828
- CADD 28.20
- Population evidence available
- Structural context available
- Literature evidence available