I81V (p.Ile81Val) variant of SERPINA1 (Alpha-1-antitrypsin)
I81V (p.Ile81Val) in SERPINA1 (Alpha-1-antitrypsin) 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 0.49 / 1. The record also includes published literature and structural context.
I81V (p.Ile81Val) variant details
- p.Ile81Val
- rs1897053025
- ClinGen CA390850488
- ClinVar RCV002858931
- TOPMed rs1897053025
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- AlphaMissense 0.08
- MetaLR 0.67
- MetaSVM 0.18
- PolyPhen-2 0.21
- SIFT 0.11
- EVE 0.25
- 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)