A4T (p.Ala4Thr) variant of TSHR (Thyrotropin receptor)
A4T (p.Ala4Thr) 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 0.10 / 1. The record also includes population frequency data and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- rs1460409181
- NCI-TCGA Cosmic COSV5331
- cosmic curated COSV53315
- gnomAD rs1460409181
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.11
- CADD 2.73
- PolyPhen-2 0.00
- SIFT 0.63
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available