I83M (p.Ile83Met) variant of LHCGR (P22888)
I83M (p.Ile83Met) in LHCGR (P22888) is a missense change. Clinical records from ClinVar, EBI, 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 0.28 / 1. The record also includes population frequency data and structural context.
I83M (p.Ile83Met) variant details
- p.Ile83Met
- rs2529875013
- ClinGen CA346760437
- ClinVar RCV002867143
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.30
- CADD 22.80
- PolyPhen-2 0.54
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available