V48I (p.Val48Ile) variant of SOS1 (Son of sevenless homolog 1)
V48I (p.Val48Ile) in SOS1 (Son of sevenless homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V48I (p.Val48Ile) variant details
- p.Val48Ile
- ExAC rs764909346
- gnomAD rs764909346
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.30
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available