E27Q (p.Glu27Gln) variant of LHCGR (P22888)
E27Q (p.Glu27Gln) in LHCGR (P22888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of LHCGR-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E27Q (p.Glu27Gln) variant details
- p.Glu27Gln
- rs979633619
- NCI-TCGA Cosmic COSV5429
- NCI-TCGA Cosmic COSV5430
- cosmic curated COSV54300
- Uncertain significance
- LHCGR-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.04
- CADD 7.45
- PolyPhen-2 0.01
- SIFT 0.31
- ClinVar: Uncertain significance (LHCGR-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available