R43S (p.Arg43Ser) variant of LHCGR (P22888)
R43S (p.Arg43Ser) in LHCGR (P22888) is a missense change. 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.
R43S (p.Arg43Ser) variant details
- p.Arg43Ser
- TOPMed rs1264896201
- gnomAD rs1264896201
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.22
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available