L64V (p.Leu64Val) variant of HOGA1 (Q86XE5)
L64V (p.Leu64Val) in HOGA1 (Q86XE5) 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 0.42 / 1. The record also includes published literature and structural context.
L64V (p.Leu64Val) variant details
- p.Leu64Val
- rs1277676251
- ClinGen CA377967445
- ClinVar RCV003294729
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.26
- ESM-1b 1.00
- AlphaMissense 0.24
- MetaLR 0.74
- MetaSVM 0.19
- CADD 14.45
- 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)