P45L (p.Pro45Leu) variant of FSHR (P23945)
P45L (p.Pro45Leu) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
P45L (p.Pro45Leu) variant details
- p.Pro45Leu
- cosmic curated COSV58630
- ExAC rs369583512
- TOPMed rs369583512
- gnomAD rs369583512
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.88
- MetaLR 0.98
- MetaSVM 1.07
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available