P120L (p.Pro120Leu) variant of TYK2 (P29597)
P120L (p.Pro120Leu) 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; Immunodeficiency 35. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P120L (p.Pro120Leu) variant details
- p.Pro120Leu
- rs758463317
- ClinGen CA9193758
- ClinVar RCV001307862
- ClinVar RCV003166753
- Uncertain significance
- Inborn genetic diseases; Immunodeficiency 35
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.15
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; Immunodeficiency 35)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)