D43E (p.Asp43Glu) variant of FSHR (P23945)
D43E (p.Asp43Glu) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
D43E (p.Asp43Glu) variant details
- p.Asp43Glu
- ExAC rs758079218
- TOPMed rs758079218
- gnomAD rs758079218
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.66
- MetaLR 0.91
- MetaSVM 0.91
- CADD 18.00
- PolyPhen-2 0.42
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available