S54P (p.Ser54Pro) variant of SRSF2 (Q01130)
S54P (p.Ser54Pro) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and published literature.
S54P (p.Ser54Pro) variant details
- p.Ser54Pro
- gnomAD 17-76737001-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.58
- CADD 24.20
- PolyPhen-2 0.13
- SIFT 0.15
- Population evidence available
- Literature evidence available