p.Ser37 Lys40del variant of SMAD3 (SMAD family member 3)
p.Ser37 Lys40del in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ser37 Lys40del variant details
- rs863223755
- gnomAD 15-67066255-CGGTC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.715
- CADD 22.20
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Literature evidence available