A34V (p.Ala34Val) variant of SMAD3 (SMAD family member 3)
A34V (p.Ala34Val) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- Ensembl rs2140188911
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.70
- AlphaMissense 0.98
- MetaLR 0.68
- MetaSVM 0.66
- CADD 26.80
- PolyPhen-2 0.99
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available