Q95R (p.Gln95Arg) variant of SMAD2 (SMAD family member 2)
Q95R (p.Gln95Arg) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
Q95R (p.Gln95Arg) variant details
- p.Gln95Arg
- gnomAD rs1445556377
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.48
- CADD 23.20
- PolyPhen-2 0.60
- SIFT 0.70
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available