P32L (p.Pro32Leu) variant of SMARCA4 (P51532)
P32L (p.Pro32Leu) in SMARCA4 (P51532) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
P32L (p.Pro32Leu) variant details
- p.Pro32Leu
- rs910095001
- ClinGen CA9203395
- cosmic curated COSV10606
- ClinVar RCV000472108
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.48
- AlphaMissense 0.70
- MetaLR 0.77
- MetaSVM 0.68
- CADD 25.80
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)
- Cited in: Rhabdoid Tumor Predisposition Syndrome. (PMID 29215836)