K22N (p.Lys22Asn) variant of SF3B1 (Splicing factor 3B subunit 1)
K22N (p.Lys22Asn) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K22N (p.Lys22Asn) variant details
- p.Lys22Asn
- cosmic curated COSV10647
- ESP rs373475459
- ExAC rs373475459
- TOPMed rs373475459
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.31
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available