Y101C (p.Tyr101Cys) variant of SF3B1 (Splicing factor 3B subunit 1)
Y101C (p.Tyr101Cys) 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 0.34 / 1. The record also includes population frequency data and structural context.
Y101C (p.Tyr101Cys) variant details
- p.Tyr101Cys
- rs1234164862
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10013
- TOPMed rs1234164862
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.13
- CADD 25.00
- PolyPhen-2 0.43
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available