L21R (p.Leu21Arg) variant of SRSF2 (Q01130)
L21R (p.Leu21Arg) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and published literature.
L21R (p.Leu21Arg) variant details
- p.Leu21Arg
- gnomAD 17-76737099-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.91
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available