Q2H (p.Gln2His) variant of SOS1 (Son of sevenless homolog 1)
Q2H (p.Gln2His) in SOS1 (Son of sevenless homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Q2H (p.Gln2His) variant details
- p.Gln2His
- gnomAD rs1673827939
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.30
- CADD 25.40
- PolyPhen-2 0.75
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available