I11N (p.Ile11Asn) variant of SMAD3 (SMAD family member 3)
I11N (p.Ile11Asn) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
I11N (p.Ile11Asn) variant details
- p.Ile11Asn
- gnomAD 15-67066186-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.51
- CADD 25.50
- PolyPhen-2 0.57
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available