V689G (p.Val689Gly) variant of TSHR (Thyrotropin receptor)
V689G (p.Val689Gly) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypothyroidism due to TSH receptor mutations; Familial gestational hyperthyroidi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
V689G (p.Val689Gly) variant details
- p.Val689Gly
- ExAC rs761341933
- TOPMed rs761341933
- gnomAD rs761341933
- Likely pathogenic
- Hypothyroidism due to TSH receptor mutations; Familial gestational hyperthyroidi
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.97
- CADD 28.10
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypothyroidism due to TSH receptor mutations; Familial gestation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available