A44T (p.Ala44Thr) variant of SMAD2 (SMAD family member 2)
A44T (p.Ala44Thr) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
A44T (p.Ala44Thr) variant details
- p.Ala44Thr
- cosmic curated COSV51010
- gnomAD rs1456954386
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.69
- CADD 27.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available