Q61L (p.Gln61Leu) variant of SOS1 (Son of sevenless homolog 1)
Q61L (p.Gln61Leu) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
Q61L (p.Gln61Leu) variant details
- p.Gln61Leu
- rs1671636707
- ClinGen CA346374155
- ClinVar RCV001316022
- Ensembl rs1671636707
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- AlphaMissense 0.11
- MetaLR 0.40
- MetaSVM -0.47
- PolyPhen-2 0.00
- SIFT 0.30
- EVE 0.13
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available