R549L (p.Arg549Leu) variant of SMARCA4 (P51532)
R549L (p.Arg549Leu) in SMARCA4 (P51532) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual disability, autosomal dominant 16; SMARCA4-related BAFopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes structural context.
R549L (p.Arg549Leu) variant details
- p.Arg549Leu
- rs2145970607
- ClinGen CA404064333
- cosmic curated COSV10075
- ClinVar RCV001533107
- Likely pathogenic
- Intellectual disability, autosomal dominant 16; SMARCA4-related BAFopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- AlphaMissense 1.00
- MetaLR 0.66
- MetaSVM 0.54
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (Intellectual disability, autosomal dominant 16; SMARCA4-related)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available