M147V (p.Met147Val) variant of SF3B1 (Splicing factor 3B subunit 1)
M147V (p.Met147Val) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
M147V (p.Met147Val) variant details
- p.Met147Val
- NCI-TCGA Cosmic COSV1001
- Ensembl rs2085191437
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.08
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.41
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available