L10P (p.Leu10Pro) variant of LHCGR (P22888)
L10P (p.Leu10Pro) 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 0.26 / 1. The record also includes population frequency data and structural context.
L10P (p.Leu10Pro) variant details
- p.Leu10Pro
- rs917607255
- ClinGen CA47295578
- ClinVar RCV003391556
- gnomAD rs917607255
- Likely pathogenic
- LHCGR-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.33
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Likely pathogenic (LHCGR-related disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available