V55M (p.Val55Met) variant of SF3B1 (Splicing factor 3B subunit 1)
V55M (p.Val55Met) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
V55M (p.Val55Met) variant details
- p.Val55Met
- rs774397512
- ClinGen CA2043019
- cosmic curated COSV59211
- ClinVar RCV004341053
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.19
- CADD 22.00
- PolyPhen-2 0.05
- SIFT 0.20
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available