W488R (p.Trp488Arg) variant of TSHR (Thyrotropin receptor)
W488R (p.Trp488Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
W488R (p.Trp488Arg) variant details
- p.Trp488Arg
- rs2140111252
- ClinGen CA390727949
- ClinVar RCV001357431
- ClinVar RCV005408864
- Likely pathogenic
- Hypothyroidism due to TSH receptor mutations; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.88
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypothyroidism due to TSH receptor mutations; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available