K666N (p.Lys666Asn) variant of SF3B1 (Splicing factor 3B subunit 1)
K666N (p.Lys666Asn) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Myelodysplastic syndrome progressed to acute myeloid leukemia; Myelodysplastic s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
K666N (p.Lys666Asn) variant details
- p.Lys666Asn
- rs377023736
- ClinGen CA2042625
- NCI-TCGA Cosmic COSV5920
- Likely pathogenic
- Myelodysplastic syndrome progressed to acute myeloid leukemia; Myelodysplastic s
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.51
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Myelodysplastic syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)
- Cited in: NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. (PMID 22138009)