M22T (p.Met22Thr) variant of TYK2 (P29597)
M22T (p.Met22Thr) in TYK2 (P29597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
M22T (p.Met22Thr) variant details
- p.Met22Thr
- rs1599370160
- ClinGen CA404023123
- ClinVar RCV002898464
- Ensembl rs1599370160
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0794
- REVEL 0.05
- CADD 9.07
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- 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)