P52L (p.Pro52Leu) variant of TSHR (Thyrotropin receptor)
P52L (p.Pro52Leu) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact 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 0.18 / 1. The record also includes population frequency data and structural context.
P52L (p.Pro52Leu) variant details
- p.Pro52Leu
- NCI-TCGA Cosmic COSV9999
- cosmic curated COSV99991
- Variant assessed as somatic; moderate impact.
- does not contribute to the genetic susceptibility to Graves disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.03
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.29
- UniProt: Variant assessed as somatic; moderate impact. (does not contribute to the genetic susceptibility to Graves dise)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available