L1049R (p.Leu1049Arg) variant of ARID1A (O14497)
L1049R (p.Leu1049Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes structural context.
L1049R (p.Leu1049Arg) variant details
- p.Leu1049Arg
- rs2124087389
- ClinGen CA339163643
- ClinVar RCV001533077
- Ensembl rs2124087389
- Likely pathogenic
- ARID1A-related BAFopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- AlphaMissense 1.00
- MetaLR 0.47
- MetaSVM 0.12
- PolyPhen-2 1.00
- SIFT 0.51
- EVE 0.78
- ClinVar: Likely pathogenic (ARID1A-related BAFopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available