K39R (p.Lys39Arg) variant of SMAD2 (SMAD family member 2)
K39R (p.Lys39Arg) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
K39R (p.Lys39Arg) variant details
- p.Lys39Arg
- gnomAD rs1178643701
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.60
- CADD 28.70
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available