Q29R (p.Gln29Arg) variant of SF3B1 (Splicing factor 3B subunit 1)
Q29R (p.Gln29Arg) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
Q29R (p.Gln29Arg) variant details
- p.Gln29Arg
- ExAC rs776930930
- gnomAD rs776930930
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.31
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available