K13K (p.Lys13Lys) variant of SMAD3 (SMAD family member 3)
K13K (p.Lys13Lys) in SMAD3 (SMAD family member 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
K13K (p.Lys13Lys) variant details
- p.Lys13Lys
- gnomAD 15-67138059-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.117
- CADD 5.13
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available