A1201V (p.Ala1201Val) variant of SMARCA2 (P51531)
A1201V (p.Ala1201Val) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Nicolaides-Baraitser syndrome; Intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A1201V (p.Ala1201Val) variant details
- p.Ala1201Val
- rs281875189
- ClinGen CA211277
- ClinVar RCV000022917
- ClinVar RCV000059680
- Pathogenic
- not provided; Nicolaides-Baraitser syndrome; Intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.79
- AlphaMissense 0.92
- MetaLR 0.85
- MetaSVM 0.85
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; Nicolaides-Baraitser syndrome; Intellectual disabi)
- EBI: Pathogenic (in NCBRS)
- UniProt: Pathogenic (in NCBRS)
- Population evidence available
- Structural context available
- Cited in: Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. (PMID 22366787)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)