S26L (p.Ser26Leu) variant of SRSF2 (Q01130)
S26L (p.Ser26Leu) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data.
S26L (p.Ser26Leu) variant details
- p.Ser26Leu
- gnomAD rs1568027382
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.63
- CADD 32.00
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)