K18Q (p.Lys18Gln) variant of THRB (Thyroid hormone receptor beta)
K18Q (p.Lys18Gln) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
K18Q (p.Lys18Gln) variant details
- p.Lys18Gln
- rs141960389
- ClinGen CA2287452
- ClinVar RCV000591894
- 1000Genomes rs141960389
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- CADD 23.50
- PolyPhen-2 0.07
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available