L12P (p.Leu12Pro) variant of FSHR (P23945)
L12P (p.Leu12Pro) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- ExAC rs762758659
- TOPMed rs762758659
- gnomAD rs762758659
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.45
- MetaLR 0.45
- MetaSVM -0.17
- CADD 26.50
- PolyPhen-2 0.75
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available