S25N (p.Ser25Asn) variant of BUB1B (O60566)
S25N (p.Ser25Asn) in BUB1B (O60566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mosaic variegated aneuploidy syndrome 1; Colorectal cancer; Premature chromatid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S25N (p.Ser25Asn) variant details
- p.Ser25Asn
- rs759550625
- ClinGen CA7475348
- ClinVar RCV003618133
- ClinVar RCV005013069
- Uncertain significance
- Mosaic variegated aneuploidy syndrome 1; Colorectal cancer; Premature chromatid
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.17
- MetaLR 0.13
- MetaSVM -1.02
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (Mosaic variegated aneuploidy syndrome 1; Colorectal cancer; Prem)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)