M147T (p.Met147Thr) variant of SF3B1 (Splicing factor 3B subunit 1)
M147T (p.Met147Thr) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
M147T (p.Met147Thr) variant details
- p.Met147Thr
- gnomAD rs1426378138
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.22
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available