E30K (p.Glu30Lys) variant of TSHR (Thyrotropin receptor)
E30K (p.Glu30Lys) 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 0.27 / 1. The record also includes population frequency data and structural context.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- NCI-TCGA Cosmic COSV5331
- cosmic curated COSV53315
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.28
- CADD 20.40
- PolyPhen-2 0.80
- SIFT 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available