A78A (p.Ala78Ala) variant of SRSF2 (Q01130)
A78A (p.Ala78Ala) in SRSF2 (Q01130) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and published literature.
A78A (p.Ala78Ala) variant details
- p.Ala78Ala
- rs2077533227
- gnomAD 17-76736927-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.167
- CADD 12.20
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Literature evidence available