A419P (p.Ala419Pro) variant of FSHR (P23945)
A419P (p.Ala419Pro) in FSHR (P23945) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ovarian hyperstimulation syndrome; Dizygotic twins; Ovarian dysgenesis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
A419P (p.Ala419Pro) variant details
- p.Ala419Pro
- ExAC rs121909661
- gnomAD rs121909661
- Likely pathogenic
- Ovarian hyperstimulation syndrome; Dizygotic twins; Ovarian dysgenesis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.97
- MetaLR 0.92
- MetaSVM 1.05
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Ovarian hyperstimulation syndrome; Dizygotic twins; Ovarian dysg)
- EBI: Pathogenic (in ODG1)
- UniProt: Pathogenic (in ODG1)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available