I45V (p.Ile45Val) variant of SRSF2 (Q01130)
I45V (p.Ile45Val) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
I45V (p.Ile45Val) variant details
- p.Ile45Val
- ExAC rs775840051
- gnomAD rs775840051
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.20
- CADD 27.40
- PolyPhen-2 0.62
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)