S2N (p.Ser2Asn) variant of SRSF2 (Q01130)
S2N (p.Ser2Asn) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and published literature.
S2N (p.Ser2Asn) variant details
- p.Ser2Asn
- gnomAD 17-76737156-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.08
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.03
- Population evidence available
- Literature evidence available