I52S (p.Ile52Ser) variant of SOS2 (Son of sevenless homolog 2)
I52S (p.Ile52Ser) in SOS2 (Son of sevenless homolog 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
I52S (p.Ile52Ser) variant details
- p.Ile52Ser
- ExAC rs771695525
- gnomAD rs771695525
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.86
- MetaLR 0.74
- MetaSVM 0.64
- CADD 28.20
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available