E73G (p.Glu73Gly) variant of FSHR (P23945)
E73G (p.Glu73Gly) in FSHR (P23945) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
E73G (p.Glu73Gly) variant details
- p.Glu73Gly
- NCI-TCGA TCGA novel
- TOPMed rs897747407
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.59
- MetaLR 0.40
- MetaSVM -0.29
- CADD 25.80
- PolyPhen-2 0.39
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available