M147I (p.Met147Ile) variant of SF3B1 (Splicing factor 3B subunit 1)
M147I (p.Met147Ile) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
M147I (p.Met147Ile) variant details
- p.Met147Ile
- ExAC rs768032201
- gnomAD rs768032201
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.15
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available