V509A (p.Val509Ala) variant of TSHR (Thyrotropin receptor)
V509A (p.Val509Ala) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hyperthyroidism due to mutations in TSH receptor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
V509A (p.Val509Ala) variant details
- p.Val509Ala
- rs121908874
- ClinGen CA118242
- ClinVar RCV000006818
- Ensembl rs121908874
- Pathogenic
- Familial hyperthyroidism due to mutations in TSH receptor
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- AlphaMissense 0.85
- MetaLR 0.92
- MetaSVM 1.09
- SIFT 0.00
- MutPred 0.74
- ClinVar: Pathogenic (Familial hyperthyroidism due to mutations in TSH receptor)
- EBI: Pathogenic (in HTNA)
- UniProt: Pathogenic (in HTNA)
- Structural context available
- Cited in: Familial hyperthyroidism without evidence of autoimmunity. (PMID 7124278)
- Cited in: Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. (PMID 7920658)