V90M (p.Val90Met) variant of JAK3 (Tyrosine-protein kinase JAK3)
V90M (p.Val90Met) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; T-B+ severe combined immunodeficiency due to JAK3 defic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
V90M (p.Val90Met) variant details
- p.Val90Met
- rs1016346013
- ClinGen CA306141734
- ClinVar RCV002266247
- ClinVar RCV003096014
- Uncertain significance
- Inborn genetic diseases; T-B+ severe combined immunodeficiency due to JAK3 defic
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.12
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; T-B+ severe combined immunodeficiency d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- 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)