L653V (p.Leu653Val) variant of TSHR (Thyrotropin receptor)
L653V (p.Leu653Val) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.82 / 1. The record also includes population frequency data and structural context.
L653V (p.Leu653Val) variant details
- p.Leu653Val
- rs2503950061
- ClinGen CA390728985
- ClinVar RCV003557833
- ClinVar RCV004783080
- Pathogenic
- Hypothyroidism due to TSH receptor mutations; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.86
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hypothyroidism due to TSH receptor mutations; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available