R46M (p.Arg46Met) variant of FSHR (P23945)
R46M (p.Arg46Met) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R46M (p.Arg46Met) variant details
- p.Arg46Met
- ExAC rs750934104
- gnomAD rs750934104
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.47
- MetaLR 0.61
- MetaSVM 0.17
- CADD 23.10
- PolyPhen-2 0.65
- SIFT 0.07
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available