V88M (p.Val88Met) variant of SF3B1 (Splicing factor 3B subunit 1)
V88M (p.Val88Met) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V88M (p.Val88Met) variant details
- p.Val88Met
- ExAC rs777196787
- TOPMed rs777196787
- gnomAD rs777196787
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.18
- CADD 23.70
- PolyPhen-2 0.24
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available