D107Y (p.Asp107Tyr) variant of BTK (Tyrosine-protein kinase BTK)
D107Y (p.Asp107Tyr) in BTK (Tyrosine-protein kinase BTK) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
D107Y (p.Asp107Tyr) variant details
- p.Asp107Tyr
- rs1926977202
- ClinGen CA413937345
- ClinVar RCV001218381
- ClinVar RCV004526816
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- AlphaMissense 0.92
- MetaLR 0.89
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.84
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)