C41Y (p.Cys41Tyr) variant of SMAD2 (SMAD family member 2)
C41Y (p.Cys41Tyr) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
C41Y (p.Cys41Tyr) variant details
- p.Cys41Tyr
- Ensembl rs1421425152
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.80
- CADD 27.40
- PolyPhen-2 0.93
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available