R132C (p.Arg132Cys) variant of SF3B1 (Splicing factor 3B subunit 1)
R132C (p.Arg132Cys) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
R132C (p.Arg132Cys) variant details
- p.Arg132Cys
- cosmic curated COSV59209
- Ensembl rs2106010499
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.61
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available