Q29P (p.Gln29Pro) variant of SF3B1 (Splicing factor 3B subunit 1)
Q29P (p.Gln29Pro) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Q29P (p.Gln29Pro) variant details
- p.Gln29Pro
- ExAC rs776930930
- gnomAD rs776930930
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.34
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.23
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available