H23D (p.His23Asp) variant of CYP27A1 (Q02318)
H23D (p.His23Asp) in CYP27A1 (Q02318) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
H23D (p.His23Asp) variant details
- p.His23Asp
- gnomAD rs1255948354
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.13
- CADD 6.99
- PolyPhen-2 0.01
- SIFT 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.7e-05)
- Structural context available