V171I (p.Val171Ile) variant of SOS2 (Son of sevenless homolog 2)
V171I (p.Val171Ile) 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.
V171I (p.Val171Ile) variant details
- p.Val171Ile
- rs1351192565
- ClinGen CA389648380
- ClinVar RCV003033556
- gnomAD rs1351192565
- Uncertain significance
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.44
- MetaLR 0.52
- MetaSVM 0.12
- CADD 25.20
- PolyPhen-2 0.29
- SIFT 0.01
- ClinVar: Uncertain significance (Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)