Q50H (p.Gln50His) variant of HSD3B2 (P26439)
Q50H (p.Gln50His) in HSD3B2 (P26439) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q50H (p.Gln50His) variant details
- p.Gln50His
- TOPMed rs1329835742
- gnomAD rs1329835742
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.38
- MetaLR 0.57
- MetaSVM -0.25
- CADD 22.60
- SIFT 0.83
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available