D42N (p.Asp42Asn) variant of SOS1 (Son of sevenless homolog 1)
D42N (p.Asp42Asn) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
D42N (p.Asp42Asn) variant details
- p.Asp42Asn
- rs1402273679
- ClinGen CA346374293
- ClinVar RCV000812614
- gnomAD rs1402273679
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.31
- CADD 23.70
- PolyPhen-2 0.06
- SIFT 0.00
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available