H23H (p.His23His) variant of CYP27A1 (Q02318)
H23H (p.His23His) in CYP27A1 (Q02318) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
H23H (p.His23His) variant details
- p.His23His
- rs1444634924
- gnomAD 2-218782251-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 4.22
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available