N107I (p.Asn107Ile) variant of LHCGR (P22888)
N107I (p.Asn107Ile) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
N107I (p.Asn107Ile) variant details
- p.Asn107Ile
- TOPMed rs1333043008
- gnomAD rs1333043008
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.84
- CADD 26.40
- PolyPhen-2 0.93
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available