Q95E (p.Gln95Glu) variant of SMAD2 (SMAD family member 2)
Q95E (p.Gln95Glu) in SMAD2 (SMAD family member 2) is a missense change. Clinical records from ClinVar 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 0.55 / 1. The record also includes population frequency data and structural context.
Q95E (p.Gln95Glu) variant details
- p.Gln95Glu
- ExAC rs757084234
- gnomAD rs757084234
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.41
- CADD 22.80
- PolyPhen-2 0.47
- SIFT 0.68
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available