M166V (p.Met166Val) variant of SOS2 (Son of sevenless homolog 2)
M166V (p.Met166Val) 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 Noonan syndrome 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
M166V (p.Met166Val) variant details
- p.Met166Val
- rs1555322175
- ClinGen CA389649430
- ClinVar RCV000521760
- Ensembl rs1555322175
- Uncertain significance
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.51
- MetaLR 0.26
- MetaSVM -0.48
- CADD 26.00
- PolyPhen-2 0.90
- SIFT 0.03
- ClinVar: Uncertain significance (Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)