P24R (p.Pro24Arg) variant of SMARCA4 (P51532)
P24R (p.Pro24Arg) 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 0.68 / 1. The record also includes published literature and structural context.
P24R (p.Pro24Arg) variant details
- p.Pro24Arg
- rs772230026
- ClinGen CA16616101
- ClinVar RCV000475042
- ClinVar RCV001026148
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- AlphaMissense 0.45
- MetaLR 0.72
- MetaSVM 0.52
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.25
- 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)
- Cited in: Rhabdoid Tumor Predisposition Syndrome. (PMID 29215836)