F631V (p.Phe631Val) variant of TSHR (Thyrotropin receptor)
F631V (p.Phe631Val) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.40 / 1. The record also includes structural context.
F631V (p.Phe631Val) variant details
- p.Phe631Val
- rs121908861
- cosmic curated COSV53322
- ClinGen CA390728843
- ClinVar RCV003314474
- Likely pathogenic
- Familial hyperthyroidism due to mutations in TSH receptor
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- AlphaMissense 0.92
- MetaLR 0.22
- MetaSVM -0.50
- SIFT 0.00
- MutPred 0.83
- ClinVar: Likely pathogenic (Familial hyperthyroidism due to mutations in TSH receptor)
- EBI: Likely pathogenic (in HTNA)
- UniProt: Likely pathogenic (in HTNA)
- Structural context available