M153V (p.Met153Val) variant of SF3B1 (Splicing factor 3B subunit 1)
M153V (p.Met153Val) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
M153V (p.Met153Val) variant details
- p.Met153Val
- TOPMed rs1271844302
- gnomAD rs1271844302
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.06
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available