V70I (p.Val70Ile) variant of SOS2 (Son of sevenless homolog 2)
V70I (p.Val70Ile) in SOS2 (Son of sevenless homolog 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
V70I (p.Val70Ile) variant details
- p.Val70Ile
- gnomAD rs1179049396
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.45
- MetaLR 0.68
- MetaSVM 0.39
- CADD 23.40
- PolyPhen-2 0.48
- SIFT 0.00
- Population evidence available
- Structural context available