P913L (p.Pro913Leu) variant of SMARCA4 (P51532)
P913L (p.Pro913Leu) 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 0.80 / 1. The record also includes population frequency data and structural context.
P913L (p.Pro913Leu) variant details
- p.Pro913Leu
- rs778175819
- ClinGen CA9204219
- NCI-TCGA Cosmic COSV6078
- Likely pathogenic
- Intellectual disability, autosomal dominant 16; SMARCA4-related BAFopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.82
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Intellectual disability, autosomal dominant 16; SMARCA4-related)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available