D49Y (p.Asp49Tyr) variant of ATP1A1 (P05023)
D49Y (p.Asp49Tyr) in ATP1A1 (P05023) 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 0.53 / 1. The record also includes published literature and structural context.
D49Y (p.Asp49Tyr) variant details
- p.Asp49Tyr
- rs778261406
- ClinGen CA341840483
- ClinVar RCV002860801
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- AlphaMissense 0.30
- MetaLR 0.51
- MetaSVM 0.15
- PolyPhen-2 0.56
- SIFT 0.00
- MutPred 0.52
- ClinVar: Uncertain significance (Inborn genetic diseases)
- 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)