D48E (p.Asp48Glu) variant of SRSF2 (Q01130)
D48E (p.Asp48Glu) in SRSF2 (Q01130) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes population frequency data.
D48E (p.Asp48Glu) variant details
- p.Asp48Glu
- 1000Genomes rs237057
- ESP rs237057
- ExAC rs237057
- TOPMed rs237057
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Population evidence available