S85A (p.Ser85Ala) variant of LHCGR (P22888)
S85A (p.Ser85Ala) 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.
S85A (p.Ser85Ala) variant details
- p.Ser85Ala
- TOPMed rs957491616
- gnomAD rs957491616
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.48
- CADD 23.40
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available