K29K (p.Lys29Lys) variant of SMAD3 (SMAD family member 3)
K29K (p.Lys29Lys) in SMAD3 (SMAD family member 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K29K (p.Lys29Lys) variant details
- p.Lys29Lys
- gnomAD 15-67066241-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.358
- CADD 13.70
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available