E32K (p.Glu32Lys) variant of LHCGR (P22888)
E32K (p.Glu32Lys) 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 0.48 / 1. The record also includes population frequency data and structural context.
E32K (p.Glu32Lys) variant details
- p.Glu32Lys
- cosmic curated COSV54294
- TOPMed rs1295794205
- gnomAD rs1295794205
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.38
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.62
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available