Q2P (p.Gln2Pro) variant of SOS1 (Son of sevenless homolog 1)
Q2P (p.Gln2Pro) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Q2P (p.Gln2Pro) variant details
- p.Gln2Pro
- Ensembl rs886056026
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.47
- CADD 26.10
- PolyPhen-2 0.55
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available