R46T (p.Arg46Thr) variant of FSHR (P23945)
R46T (p.Arg46Thr) 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.
R46T (p.Arg46Thr) variant details
- p.Arg46Thr
- ExAC rs750934104
- gnomAD rs750934104
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.43
- MetaLR 0.38
- MetaSVM -0.36
- CADD 19.10
- SIFT 0.24
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available