K42E (p.Lys42Glu) variant of TSHR (Thyrotropin receptor)
K42E (p.Lys42Glu) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
K42E (p.Lys42Glu) variant details
- p.Lys42Glu
- rs766387143
- ExAC rs766387143
- TOPMed rs766387143
- gnomAD rs766387143
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.42
- CADD 22.80
- PolyPhen-2 0.21
- SIFT 0.65
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available