D1050Y (p.Asp1050Tyr) variant of ARID1A (O14497)
D1050Y (p.Asp1050Tyr) in ARID1A (O14497) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of ARID1A-related BAFopathy; Intellectual disability, autosomal dominant 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes structural context.
D1050Y (p.Asp1050Tyr) variant details
- p.Asp1050Tyr
- rs1570609440
- ClinGen CA339163645
- cosmic curated COSV10587
- ClinVar RCV000850527
- Likely pathogenic
- ARID1A-related BAFopathy; Intellectual disability, autosomal dominant 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- AlphaMissense 1.00
- MetaLR 0.66
- MetaSVM 0.49
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Likely pathogenic (ARID1A-related BAFopathy; Intellectual disability, autosomal dom)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available