G17C (p.Gly17Cys) variant of CYP27A1 (Q02318)
G17C (p.Gly17Cys) in CYP27A1 (Q02318) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
G17C (p.Gly17Cys) variant details
- p.Gly17Cys
- gnomAD 2-218782228-GCCGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.349
- CADD 29.20
- Population evidence available
- Structural context available
- Literature evidence available