P116S (p.Pro116Ser) variant of LHCGR (P22888)
P116S (p.Pro116Ser) in LHCGR (P22888) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. 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.
P116S (p.Pro116Ser) variant details
- p.Pro116Ser
- ESP rs377265035
- ExAC rs377265035
- TOPMed rs377265035
- gnomAD rs377265035
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.20
- CADD 13.60
- PolyPhen-2 0.09
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available