P52A (p.Pro52Ala) variant of TSHR (Thyrotropin receptor)
P52A (p.Pro52Ala) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of does not contribute to the genetic susceptibility to Graves disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
P52A (p.Pro52Ala) variant details
- p.Pro52Ala
- 1000Genomes rs2234919
- ESP rs2234919
- ExAC rs2234919
- TOPMed rs2234919
- Benign
- does not contribute to the genetic susceptibility to Graves disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.09
- CADD 5.88
- PolyPhen-2 0.00
- SIFT 0.86
- EBI: Benign (does not contribute to the genetic susceptibility to Graves dise)
- UniProt: Benign (does not contribute to the genetic susceptibility to Graves dise)
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available