N24N (p.Asn24Asn) variant of SMAD3 (SMAD family member 3)
N24N (p.Asn24Asn) in SMAD3 (SMAD family member 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
N24N (p.Asn24Asn) variant details
- p.Asn24Asn
- rs780995229
- gnomAD 15-67066226-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.395
- CADD 12.80
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available