V79M (p.Val79Met) variant of SRSF2 (Q01130)
V79M (p.Val79Met) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
V79M (p.Val79Met) variant details
- p.Val79Met
- Ensembl rs2143947437
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.04
- CADD 20.70
- PolyPhen-2 0.09
- SIFT 0.94
- Most common in the Non-Finnish European population (allele frequency 9e-07)