P45R (p.Pro45Arg) variant of FSHR (P23945)
P45R (p.Pro45Arg) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
P45R (p.Pro45Arg) variant details
- p.Pro45Arg
- ExAC rs369583512
- TOPMed rs369583512
- gnomAD rs369583512
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.89
- MetaLR 0.98
- MetaSVM 1.07
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available