D2G (p.Asp2Gly) variant of SMAD4 (SMAD family member 4)
D2G (p.Asp2Gly) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
D2G (p.Asp2Gly) variant details
- p.Asp2Gly
- gnomAD 18-51047051-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.73
- MetaSVM 0.41
- CADD 23.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available