G70E (p.Gly70Glu) variant of FSHR (P23945)
G70E (p.Gly70Glu) in FSHR (P23945) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
G70E (p.Gly70Glu) variant details
- p.Gly70Glu
- 1000Genomes rs148279853
- ESP rs148279853
- ExAC rs148279853
- TOPMed rs148279853
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.12
- MetaLR 0.24
- MetaSVM -0.83
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available