K43R (p.Lys43Arg) variant of SMAD3 (SMAD family member 3)
K43R (p.Lys43Arg) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
K43R (p.Lys43Arg) variant details
- p.Lys43Arg
- gnomAD 15-67066282-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.76
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available