D89Y (p.Asp89Tyr) variant of FSHR (P23945)
D89Y (p.Asp89Tyr) in FSHR (P23945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
D89Y (p.Asp89Tyr) variant details
- p.Asp89Tyr
- 1000Genomes rs140960768
- ESP rs140960768
- ExAC rs140960768
- TOPMed rs140960768
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.39
- MetaLR 0.37
- MetaSVM -0.70
- CADD 16.00
- PolyPhen-2 0.02
- SIFT 0.51
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available