H23Q (p.His23Gln) variant of CYP27A1 (Q02318)
H23Q (p.His23Gln) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
H23Q (p.His23Gln) variant details
- p.His23Gln
- gnomAD 2-218782251-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0749
- REVEL 0.07
- CADD 2.19
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available