P58T (p.Pro58Thr) variant of TNFAIP3 (P21580)
P58T (p.Pro58Thr) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P58T (p.Pro58Thr) variant details
- p.Pro58Thr
- rs529257107
- ClinGen CA4019352
- ClinVar RCV002015431
- ClinVar RCV003269064
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- MetaLR 0.03
- MetaSVM -1.10
- CADD 21.90
- PolyPhen-2 0.07
- SIFT 0.23
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- 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)