P24A (p.Pro24Ala) variant of SMARCA4 (P51532)
P24A (p.Pro24Ala) in SMARCA4 (P51532) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P24A (p.Pro24Ala) variant details
- p.Pro24Ala
- rs1060502057
- ClinGen CA16616100
- ClinVar RCV000462210
- ClinVar RCV000571106
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.41
- CADD 24.50
- PolyPhen-2 0.96
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 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)