E622D (p.Glu622Asp) variant of SF3B1 (Splicing factor 3B subunit 1)
E622D (p.Glu622Asp) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Myelodysplastic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E622D (p.Glu622Asp) variant details
- p.Glu622Asp
- rs763149798
- NCI-TCGA Cosmic COSV5920
- ExAC rs763149798
- Likely pathogenic
- Myelodysplastic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.46
- CADD 21.10
- PolyPhen-2 0.61
- SIFT 0.05
- ClinVar: Likely pathogenic (Myelodysplastic syndrome)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available