N409S (p.Asn409Ser) variant of GBA1 (P04062)
N409S (p.Asn409Ser) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic; risk factor in the context of autosomal dominant GBA1-related disorders; GBA1-related disorders; Lewy body dem. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
N409S (p.Asn409Ser) variant details
- p.Asn409Ser
- rs76763715
- ClinGen CA116767
- ClinVar RCV000004515
- ClinVar RCV000004516
- Pathogenic/Likely pathogenic; risk factor
- autosomal dominant GBA1-related disorders; GBA1-related disorders; Lewy body dem
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.67
- AlphaMissense 0.37
- MetaLR 0.94
- MetaSVM 1.04
- CADD 24.10
- PolyPhen-2 0.70
- ClinVar: Pathogenic/Likely pathogenic; risk factor (autosomal dominant GBA1-related disorders; GBA1-related disorder)
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online. (PMID 10206680)
- Cited in: Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel… (PMID 10340647)