D43N (p.Asp43Asn) variant of TSHR (Thyrotropin receptor)
D43N (p.Asp43Asn) 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 0.31 / 1. The record also includes population frequency data and structural context.
D43N (p.Asp43Asn) variant details
- p.Asp43Asn
- NCI-TCGA Cosmic COSV5332
- cosmic curated COSV53323
- gnomAD rs1886638900
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.17
- CADD 23.30
- PolyPhen-2 0.37
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available