S45A (p.Ser45Ala) variant of LAMB3 (Laminin subunit beta-3)
S45A (p.Ser45Ala) in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
S45A (p.Ser45Ala) variant details
- p.Ser45Ala
- rs796051883
- ClinGen CA203919
- ClinVar RCV000186216
- Ensembl rs796051883
- Uncertain significance
- Autism
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- AlphaMissense 0.35
- MetaLR 0.50
- MetaSVM -0.03
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.75
- ClinVar: Uncertain significance (Autism)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental… (PMID 20466091)
- Cited in: Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a… (PMID 34131312)