R46K (p.Arg46Lys) variant of FSHR (P23945)
R46K (p.Arg46Lys) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R46K (p.Arg46Lys) variant details
- p.Arg46Lys
- ExAC rs750934104
- gnomAD rs750934104
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.34
- MetaLR 0.42
- MetaSVM -0.49
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.62
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available