T74M (p.Thr74Met) variant of SF3B1 (Splicing factor 3B subunit 1)
T74M (p.Thr74Met) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T74M (p.Thr74Met) variant details
- p.Thr74Met
- cosmic curated COSV10965
- ExAC rs775351918
- TOPMed rs775351918
- gnomAD rs775351918
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.22
- CADD 23.20
- PolyPhen-2 0.06
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 7.3e-05)
- Structural context available