T89P (p.Thr89Pro) variant of TNFRSF9 (Q07011)
T89P (p.Thr89Pro) in TNFRSF9 (Q07011) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
T89P (p.Thr89Pro) variant details
- p.Thr89Pro
- rs752678621
- ClinGen CA569294
- ClinVar RCV001982187
- ClinVar RCV004970574
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0385
- REVEL 0.03
- CADD 0.59
- PolyPhen-2 0.06
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00083)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)