K3N (p.Lys3Asn) variant of SF3B1 (Splicing factor 3B subunit 1)
K3N (p.Lys3Asn) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
K3N (p.Lys3Asn) variant details
- p.Lys3Asn
- TOPMed rs1417266098
- gnomAD rs1417266098
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.20
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available