L105F (p.Leu105Phe) variant of SOS1 (Son of sevenless homolog 1)
L105F (p.Leu105Phe) 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 0.74 / 1. The record also includes structural context.
L105F (p.Leu105Phe) variant details
- p.Leu105Phe
- rs1230538285
- ClinGen CA346373844
- ClinVar RCV002590259
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- AlphaMissense 0.71
- MetaLR 0.75
- MetaSVM 0.54
- PolyPhen-2 0.89
- SIFT 0.02
- EVE 0.59
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available