K20R (p.Lys20Arg) variant of SMAD3 (SMAD family member 3)
K20R (p.Lys20Arg) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
K20R (p.Lys20Arg) variant details
- p.Lys20Arg
- TOPMed rs1375050629
- gnomAD rs1375050629
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.16
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available