P36L (p.Pro36Leu) variant of SOS1 (Son of sevenless homolog 1)
P36L (p.Pro36Leu) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- rs2148140667
- ClinGen CA346374328
- ClinVar RCV001763286
- Ensembl rs2148140667
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- AlphaMissense 0.59
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available