Q61H (p.Gln61His) variant of SOS1 (Son of sevenless homolog 1)
Q61H (p.Gln61His) 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 0.38 / 1. The record also includes population frequency data and structural context.
Q61H (p.Gln61His) variant details
- p.Gln61His
- rs1355644577
- ClinGen CA346374154
- ClinVar RCV001761139
- gnomAD rs1355644577
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.49
- CADD 20.20
- PolyPhen-2 0.51
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available