N4S (p.Asn4Ser) variant of THRB (Thyroid hormone receptor beta)
N4S (p.Asn4Ser) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Thyroid hormone resistance, generalized, autosomal dominant; See c. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
N4S (p.Asn4Ser) variant details
- p.Asn4Ser
- rs114070375
- ClinGen CA2287488
- ClinVar RCV001145165
- ClinVar RCV002287474
- Conflicting interpretations
- not provided; Thyroid hormone resistance, generalized, autosomal dominant; See c
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- CADD 24.80
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Thyroid hormone resistance, generalized, autosomal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available