M126V (p.Met126Val) variant of SF3B1 (Splicing factor 3B subunit 1)
M126V (p.Met126Val) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
M126V (p.Met126Val) variant details
- p.Met126Val
- Ensembl rs1176548611
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.32
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available