K22R (p.Lys22Arg) variant of SF3B1 (Splicing factor 3B subunit 1)
K22R (p.Lys22Arg) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
K22R (p.Lys22Arg) variant details
- p.Lys22Arg
- ExAC rs765775783
- TOPMed rs765775783
- gnomAD rs765775783
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.04
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available