Q3H (p.Gln3His) variant of LHCGR (P22888)
Q3H (p.Gln3His) in LHCGR (P22888) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
Q3H (p.Gln3His) variant details
- p.Gln3His
- TOPMed rs1438175782
- gnomAD rs1438175782
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.12
- CADD 14.40
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available