L12R (p.Leu12Arg) variant of FSHR (P23945)
L12R (p.Leu12Arg) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
L12R (p.Leu12Arg) variant details
- p.Leu12Arg
- ExAC rs762758659
- TOPMed rs762758659
- gnomAD rs762758659
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.50
- MetaLR 0.45
- MetaSVM -0.14
- CADD 24.20
- PolyPhen-2 0.60
- SIFT 0.18
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available