I59V (p.Ile59Val) variant of THRB (Thyroid hormone receptor beta)
I59V (p.Ile59Val) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Thyroid hormone resistance, generalized, autosomal recessive; Sele. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
I59V (p.Ile59Val) variant details
- p.Ile59Val
- rs141172732
- ClinGen CA2287421
- ClinVar RCV000896879
- ClinVar RCV002487963
- Benign/Likely benign
- not provided; Thyroid hormone resistance, generalized, autosomal recessive; Sele
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Benign/Likely benign (not provided; Thyroid hormone resistance, generalized, autosomal)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available