D42D (p.Asp42Asp) variant of SRSF2 (Q01130)
D42D (p.Asp42Asp) in SRSF2 (Q01130) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and published literature.
D42D (p.Asp42Asp) variant details
- p.Asp42Asp
- rs1211837574
- gnomAD 17-76737035-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 15.30
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Literature evidence available