A485V (p.Ala485Val) variant of TSHR (Thyrotropin receptor)
A485V (p.Ala485Val) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Hyperthyroidism. The record also includes structural context.
A485V (p.Ala485Val) variant details
- p.Ala485Val
- gnomAD rs1396470006
- Likely pathogenic
- Hyperthyroidism
- Missense
- ClinVar: Likely pathogenic (Hyperthyroidism)
- UniProt: Likely pathogenic
- Structural context available