A317S (p.Ala317Ser) variant of THRB (Thyroid hormone receptor beta)
A317S (p.Ala317Ser) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Thyroid hormone resistance syndrome; Hyperthyroidism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes structural context.
A317S (p.Ala317Ser) variant details
- p.Ala317Ser
- rs121918690
- ClinGen CA351888893
- cosmic curated COSV10809
- ClinVar RCV001284718
- Likely pathogenic
- not provided; Thyroid hormone resistance syndrome; Hyperthyroidism
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- AlphaMissense 0.79
- MetaLR 0.86
- MetaSVM 0.87
- PolyPhen-2 0.97
- SIFT 0.01
- EVE 0.19
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in GRTHD)
- UniProt: Pathogenic (in GRTHD)
- Structural context available