V55A (p.Val55Ala) variant of RELN (Reelin)
V55A (p.Val55Ala) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions and published literature.
V55A (p.Val55Ala) variant details
- p.Val55Ala
- rs1285117765
- ClinGen CA368931335
- ClinVar RCV002813861
- TOPMed rs1285117765
- Uncertain significance
- Inborn genetic diseases
- Missense
- AlphaMissense 0.71
- MetaLR 0.10
- MetaSVM -1.00
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.41
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)