V122M (p.Val122Met) variant of SOS2 (Son of sevenless homolog 2)
V122M (p.Val122Met) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Noonan syndrome and Noonan-related syndrome; Noonan syndrome 9; Cardiovascular p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
V122M (p.Val122Met) variant details
- p.Val122Met
- rs1208838203
- ClinGen CA389649762
- ClinVar RCV001307479
- ClinVar RCV001813589
- Conflicting interpretations
- Noonan syndrome and Noonan-related syndrome; Noonan syndrome 9; Cardiovascular p
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.48
- MetaLR 0.44
- MetaSVM -0.10
- CADD 25.30
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Noonan syndrome and Noonan-related syndrome; Noonan syndrome 9;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)