L5P (p.Leu5Pro) variant of FSHR (P23945)
L5P (p.Leu5Pro) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L5P (p.Leu5Pro) variant details
- p.Leu5Pro
- TOPMed rs1673172078
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.52
- MetaLR 0.42
- MetaSVM -0.38
- CADD 22.60
- PolyPhen-2 0.67
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available