E73Q (p.Glu73Gln) variant of FSHR (P23945)
E73Q (p.Glu73Gln) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E73Q (p.Glu73Gln) variant details
- p.Glu73Gln
- gnomAD rs773462398
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.37
- MetaLR 0.31
- MetaSVM -0.51
- CADD 19.80
- PolyPhen-2 0.02
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available