R14L (p.Arg14Leu) variant of SMAD3 (SMAD family member 3)
R14L (p.Arg14Leu) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R14L (p.Arg14Leu) variant details
- p.Arg14Leu
- TOPMed rs1321080616
- gnomAD rs1321080616
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.75
- AlphaMissense 0.98
- MetaLR 0.59
- MetaSVM 0.37
- CADD 32.00
- PolyPhen-2 0.99
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available