N432S (p.Asn432Ser) variant of TSHR (Thyrotropin receptor)
N432S (p.Asn432Ser) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar 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 0.80 / 1. The record also includes population frequency data and structural context.
N432S (p.Asn432Ser) variant details
- p.Asn432Ser
- ESP rs368268514
- ExAC rs368268514
- TOPMed rs368268514
- gnomAD rs368268514
- Likely pathogenic
- Hypothyroidism due to TSH receptor mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.93
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypothyroidism due to TSH receptor mutations)
- UniProt: Likely pathogenic (in CHNG1)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available