W85C (p.Trp85Cys) variant of SMAD2 (SMAD family member 2)
W85C (p.Trp85Cys) 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.
W85C (p.Trp85Cys) variant details
- p.Trp85Cys
- cosmic curated COSV10005
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.72
- CADD 25.30
- PolyPhen-2 0.98
- SIFT 0.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available