P30L (p.Pro30Leu) variant of SMARCA4 (P51532)
P30L (p.Pro30Leu) in SMARCA4 (P51532) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- rs2145722893
- ClinGen CA404054139
- ClinVar RCV002376324
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- AlphaMissense 0.52
- MetaLR 0.74
- MetaSVM 0.61
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.21
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)