Q95K (p.Gln95Lys) variant of SMAD2 (SMAD family member 2)
Q95K (p.Gln95Lys) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
Q95K (p.Gln95Lys) variant details
- p.Gln95Lys
- ExAC rs757084234
- gnomAD rs757084234
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.49
- CADD 23.10
- PolyPhen-2 0.47
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available