P46Q (p.Pro46Gln) variant of SRSF2 (Q01130)
P46Q (p.Pro46Gln) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
P46Q (p.Pro46Gln) variant details
- p.Pro46Gln
- cosmic curated COSV10033
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.58
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available