D93G (p.Asp93Gly) variant of SF3B1 (Splicing factor 3B subunit 1)
D93G (p.Asp93Gly) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D93G (p.Asp93Gly) variant details
- p.Asp93Gly
- gnomAD rs1372899073
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.11
- CADD 24.40
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available