E76Q (p.Glu76Gln) variant of FSHR (P23945)
E76Q (p.Glu76Gln) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
E76Q (p.Glu76Gln) variant details
- p.Glu76Gln
- cosmic curated COSV10516
- ExAC rs748549199
- gnomAD rs748549199
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.61
- MetaLR 0.77
- MetaSVM 0.62
- CADD 27.30
- PolyPhen-2 0.94
- SIFT 0.07
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available