Y8H (p.Tyr8His) variant of SOS1 (Son of sevenless homolog 1)
Y8H (p.Tyr8His) 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 0.65 / 1. The record also includes population frequency data and structural context.
Y8H (p.Tyr8His) variant details
- p.Tyr8His
- Ensembl rs1673826865
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.66
- CADD 28.50
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available