I21T (p.Ile21Thr) variant of TNFAIP3 (P21580)
I21T (p.Ile21Thr) in TNFAIP3 (P21580) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
I21T (p.Ile21Thr) variant details
- p.Ile21Thr
- rs149162594
- ClinGen CA4019339
- ClinVar RCV002039513
- ClinVar RCV004038859
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- MetaLR 0.11
- MetaSVM -0.94
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00033)
- 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)