M61V (p.Met61Val) variant of SOS2 (Son of sevenless homolog 2)
M61V (p.Met61Val) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Noonan syndrome 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
M61V (p.Met61Val) variant details
- p.Met61Val
- rs774761716
- ClinGen CA7177597
- ClinVar RCV001948308
- ClinVar RCV002407101
- Uncertain significance
- Cardiovascular phenotype; Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.21
- MetaLR 0.27
- MetaSVM -0.88
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)