D48D (p.Asp48Asp) variant of SRSF2 (Q01130)
D48D (p.Asp48Asp) in SRSF2 (Q01130) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and published literature.
D48D (p.Asp48Asp) variant details
- p.Asp48Asp
- rs237057
- gnomAD 17-76737017-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 14.70
- Most common in the HGDP:DAUR population (allele frequency 1)
- Literature evidence available