D403N (p.Asp403Asn) variant of TSHR (Thyrotropin receptor)
D403N (p.Asp403Asn) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypothyroidism due to TSH receptor mutations. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
D403N (p.Asp403Asn) variant details
- p.Asp403Asn
- rs565082329
- ClinGen CA7294409
- cosmic curated COSV53316
- ClinVar RCV003314197
- Likely pathogenic
- Hypothyroidism due to TSH receptor mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.61
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Hypothyroidism due to TSH receptor mutations)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available