K96E (p.Lys96Glu) variant of FSHR (P23945)
K96E (p.Lys96Glu) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
K96E (p.Lys96Glu) variant details
- p.Lys96Glu
- 1000Genomes rs555904948
- ExAC rs555904948
- gnomAD rs555904948
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.11
- MetaLR 0.10
- MetaSVM -1.08
- CADD 21.90
- PolyPhen-2 0.10
- SIFT 0.27
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available