H62Q (p.His62Gln) variant of CYP27B1 (O15528)
H62Q (p.His62Gln) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
H62Q (p.His62Gln) variant details
- p.His62Gln
- gnomAD rs1955366223
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- ESM-1b 1.00
- AlphaMissense 0.81
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available