R169K (p.Arg169Lys) variant of SF3B1 (Splicing factor 3B subunit 1)
R169K (p.Arg169Lys) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R169K (p.Arg169Lys) variant details
- p.Arg169Lys
- gnomAD rs2085155669
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.18
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available