R132H (p.Arg132His) variant of SF3B1 (Splicing factor 3B subunit 1)
R132H (p.Arg132His) 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 SF3B1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R132H (p.Arg132His) variant details
- p.Arg132His
- cosmic curated COSV99065
- Ensembl rs2106010494
- Uncertain significance
- SF3B1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.62
- CADD 26.40
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (SF3B1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available