D5N (p.Asp5Asn) variant of TSHR (Thyrotropin receptor)
D5N (p.Asp5Asn) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
D5N (p.Asp5Asn) variant details
- p.Asp5Asn
- cosmic curated COSV10645
- TOPMed rs755970622
- gnomAD rs755970622
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0798
- REVEL 0.06
- CADD 1.79
- PolyPhen-2 0.00
- SIFT 0.65
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available