N55S (p.Asn55Ser) variant of GJA1 (Gap junction alpha-1 protein)
N55S (p.Asn55Ser) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Oculodentodigital dysplasia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
N55S (p.Asn55Ser) variant details
- p.Asn55Ser
- rs1562174023
- ClinGen CA365558057
- ClinVar RCV000731884
- ClinVar RCV005870832
- Uncertain significance
- Inborn genetic diseases; Oculodentodigital dysplasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- AlphaMissense 0.72
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Uncertain significance (Inborn genetic diseases; Oculodentodigital dysplasia; not provid)
- 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)