P48L (p.Pro48Leu) variant of SMARCB1 (Q12824)
P48L (p.Pro48Leu) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes experimental measurements, published literature, and structural context.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- rs387906811
- ClinGen CA129018
- ClinVar RCV000023122
- ClinVar RCV001321700
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.41
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.649
- Cited in: Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas. (PMID 20930055)
- Cited in: Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial… (PMID 22038540)