M27V (p.Met27Val) variant of SMARCA4 (P51532)
M27V (p.Met27Val) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
M27V (p.Met27Val) variant details
- p.Met27Val
- rs768328175
- ClinGen CA9203393
- ClinVar RCV000475634
- ClinVar RCV000575563
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.50
- CADD 23.50
- PolyPhen-2 0.27
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00019)
- 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)