E27K (p.Glu27Lys) variant of SMAD3 (SMAD family member 3)
E27K (p.Glu27Lys) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- gnomAD 15-67098952-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- CADD 8.39
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available