L57P (p.Leu57Pro) variant of TSHR (Thyrotropin receptor)
L57P (p.Leu57Pro) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial gestational hyperthyroidism; Hypothyroidism due to TSH receptor mutatio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
L57P (p.Leu57Pro) variant details
- p.Leu57Pro
- rs200401152
- ClinGen CA7293999
- ClinVar RCV001763006
- ClinVar RCV002496076
- Uncertain significance
- Familial gestational hyperthyroidism; Hypothyroidism due to TSH receptor mutatio
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.78
- CADD 31.00
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Uncertain significance (Familial gestational hyperthyroidism; Hypothyroidism due to TSH)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available