D21N (p.Asp21Asn) variant of SMARCB1 (Q12824)
D21N (p.Asp21Asn) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D21N (p.Asp21Asn) variant details
- p.Asp21Asn
- rs1601382598
- ClinGen CA410930807
- ClinVar RCV001025002
- ClinVar RCV001362384
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- CADD 25.20
- PolyPhen-2 0.30
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.227
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)