E35K (p.Glu35Lys) variant of TSHR (Thyrotropin receptor)
E35K (p.Glu35Lys) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E35K (p.Glu35Lys) variant details
- p.Glu35Lys
- rs1192804611
- NCI-TCGA Cosmic COSV5332
- cosmic curated COSV53327
- TOPMed rs1192804611
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.19
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.90
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available