N18S (p.Asn18Ser) variant of TUBA1A (Tubulin alpha-1A chain)
N18S (p.Asn18Ser) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Lissencephaly due to TUBA1A mutation; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
N18S (p.Asn18Ser) variant details
- p.Asn18Ser
- rs1064795213
- ClinGen CA16619552
- ClinVar RCV000482824
- ClinVar RCV000501252
- Conflicting interpretations
- Lissencephaly due to TUBA1A mutation; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.39
- AlphaMissense 0.90
- MetaLR 0.67
- MetaSVM 0.64
- CADD 23.40
- PolyPhen-2 0.98
- ClinVar: Conflicting classifications of pathogenicity (Lissencephaly due to TUBA1A mutation; not specified; not provide)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:ORCADIAN population (allele frequency 0.5)
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)