H23T (p.His23Thr) variant of CYP27A1 (Q02318)
H23T (p.His23Thr) in CYP27A1 (Q02318) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
H23T (p.His23Thr) variant details
- p.His23Thr
- gnomAD 2-218782244-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.404
- CADD 18.60
- Population evidence available
- Structural context available
- Literature evidence available