L16Q (p.Leu16Gln) variant of LHCGR (P22888)
L16Q (p.Leu16Gln) in LHCGR (P22888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of See cases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L16Q (p.Leu16Gln) variant details
- p.Leu16Gln
- rs4539842
- ClinGen CA1653498
- cosmic curated COSV54292
- ClinVar RCV004584474
- Uncertain significance
- See cases
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.45
- CADD 23.80
- PolyPhen-2 0.67
- SIFT 0.02
- ClinVar: Uncertain significance (See cases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00012)
- Structural context available