A56T (p.Ala56Thr) variant of TNFRSF9 (Q07011)
A56T (p.Ala56Thr) in TNFRSF9 (Q07011) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A56T (p.Ala56Thr) variant details
- p.Ala56Thr
- rs9657963
- ClinGen CA569325
- cosmic curated COSV66348
- ClinVar RCV000238983
- Benign/Likely benign
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0947
- REVEL 0.07
- CADD 6.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign/Likely benign (not specified; not provided)
- EBI: Benign (in dbSNP:rs9657963)
- UniProt: Benign (in dbSNP:rs9657963)
- Most common in the HGDP:ADYGEI population (allele frequency 0.059)
- Structural context available
- Literature evidence available