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 0.45 / 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 0.446
- REVEL 0.34
- CADD 22.00
- PolyPhen-2 0.15
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available