L11P (p.Leu11Pro) variant of LHCGR (P22888)
L11P (p.Leu11Pro) in LHCGR (P22888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of LHCGR-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- rs755654915
- ClinGen CA1653500
- ClinVar RCV003408511
- ExAC rs755654915
- Likely pathogenic
- LHCGR-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.20
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Likely pathogenic (LHCGR-related disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)
- Structural context available