I40F (p.Ile40Phe) variant of FSHR (P23945)
I40F (p.Ile40Phe) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
I40F (p.Ile40Phe) variant details
- p.Ile40Phe
- TOPMed rs969910938
- gnomAD rs969910938
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.69
- MetaLR 0.84
- MetaSVM 0.58
- CADD 23.70
- PolyPhen-2 0.78
- SIFT 0.08
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available