P23R (p.Pro23Arg) variant of SMARCE1 (Q969G3)
P23R (p.Pro23Arg) in SMARCE1 (Q969G3) 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 0.46 / 1. The record also includes experimental measurements, published literature, and structural context.
P23R (p.Pro23Arg) variant details
- p.Pro23Arg
- rs2144009244
- ClinGen CA399369974
- ClinVar RCV002267466
- ClinVar RCV004047465
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- AlphaMissense 0.80
- MetaLR 0.23
- MetaSVM -0.66
- PolyPhen-2 0.95
- SIFT 0.01
- EVE 0.86
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -1.22
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)