D169N (p.Asp169Asn) variant of SOS2 (Son of sevenless homolog 2)
D169N (p.Asp169Asn) in SOS2 (Son of sevenless homolog 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
D169N (p.Asp169Asn) variant details
- p.Asp169Asn
- gnomAD rs1886422672
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.77
- MetaLR 0.86
- MetaSVM 0.94
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available