L44F (p.Leu44Phe) variant of FSHR (P23945)
L44F (p.Leu44Phe) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
L44F (p.Leu44Phe) variant details
- p.Leu44Phe
- TOPMed rs1023729818
- gnomAD rs1023729818
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.68
- MetaLR 0.86
- MetaSVM 0.72
- CADD 22.60
- PolyPhen-2 0.78
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available