E27K (p.Glu27Lys) variant of LHCGR (P22888)
E27K (p.Glu27Lys) in LHCGR (P22888) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- rs979633619
- NCI-TCGA Cosmic COSV5429
- cosmic curated COSV54295
- NCI-TCGA Cosmic COSV5430
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.08
- CADD 9.79
- PolyPhen-2 0.00
- SIFT 0.54
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00074)
- Structural context available