D83N (p.Asp83Asn) variant of SOS1 (Son of sevenless homolog 1)
D83N (p.Asp83Asn) in SOS1 (Son of sevenless homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
D83N (p.Asp83Asn) variant details
- p.Asp83Asn
- gnomAD rs1401325594
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.60
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available