R27K (p.Arg27Lys) variant of SMAD4 (SMAD family member 4)
R27K (p.Arg27Lys) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes structural context.
R27K (p.Arg27Lys) variant details
- p.Arg27Lys
- Ensembl rs2144400769
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.40
- ESM-1b 1.00
- AlphaMissense 0.85
- MetaLR 0.35
- MetaSVM -0.59
- CADD 28.80
- Structural context available