S18T (p.Ser18Thr) variant of SMAD4 (SMAD family member 4)
S18T (p.Ser18Thr) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
S18T (p.Ser18Thr) variant details
- p.Ser18Thr
- Ensembl rs2144400567
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.89
- MetaSVM 0.91
- CADD 27.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available