C41R (p.Cys41Arg) variant of SMAD2 (SMAD family member 2)
C41R (p.Cys41Arg) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
C41R (p.Cys41Arg) variant details
- p.Cys41Arg
- TOPMed rs2033449914
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.83
- CADD 29.10
- PolyPhen-2 0.82
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available