M269V (p.Met269Val) variant of SOS1 (Son of sevenless homolog 1)
M269V (p.Met269Val) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; RASopathy; Noonan syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
M269V (p.Met269Val) variant details
- p.Met269Val
- rs1671005559
- ClinGen CA346367674
- NCI-TCGA Cosmic COSV6767
- cosmic curated COSV67675
- Conflicting interpretations
- Cardiovascular phenotype; RASopathy; Noonan syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.79
- CADD 23.20
- PolyPhen-2 0.05
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; RASopathy; Noonan syndrome 4)
- EBI: Likely pathogenic (in NS4)
- UniProt: Likely pathogenic (in NS4)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine… (PMID 29398453)
- Cited in: Noonan Syndrome. (PMID 20301303)