L553R (p.Leu553Arg) variant of SMARCA4 (P51532)
L553R (p.Leu553Arg) 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 0.65 / 1. The record also includes structural context.
L553R (p.Leu553Arg) variant details
- p.Leu553Arg
- rs2145971047
- ClinGen CA404064357
- ClinVar RCV001533124
- Ensembl rs2145971047
- Likely pathogenic
- SMARCA4-related BAFopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- AlphaMissense 1.00
- MetaLR 0.60
- MetaSVM 0.39
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Likely pathogenic (SMARCA4-related BAFopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available