L1092R (p.Leu1092Arg) variant of SMARCA4 (P51532)
L1092R (p.Leu1092Arg) in SMARCA4 (P51532) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of SMARCA4-related BAFopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
L1092R (p.Leu1092Arg) variant details
- p.Leu1092Arg
- rs2146543069
- ClinGen CA404061481
- ClinVar RCV001533131
- Ensembl rs2146543069
- Likely pathogenic
- SMARCA4-related BAFopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- AlphaMissense 1.00
- MetaLR 0.70
- MetaSVM 0.63
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.73
- ClinVar: Likely pathogenic (SMARCA4-related BAFopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available