T56A (p.Thr56Ala) variant of FSHR (P23945)
T56A (p.Thr56Ala) 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.
T56A (p.Thr56Ala) variant details
- p.Thr56Ala
- cosmic curated COSV58629
- TOPMed rs984243877
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.77
- MetaLR 0.70
- MetaSVM 0.46
- CADD 23.80
- PolyPhen-2 0.22
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available