T7A (p.Thr7Ala) variant of SMAD4 (SMAD family member 4)
T7A (p.Thr7Ala) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T7A (p.Thr7Ala) variant details
- p.Thr7Ala
- Ensembl rs2144400256
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.75
- MetaSVM 0.52
- CADD 23.20
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available