N24T (p.Asn24Thr) variant of SMAD3 (SMAD family member 3)
N24T (p.Asn24Thr) in SMAD3 (SMAD family member 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
N24T (p.Asn24Thr) variant details
- p.Asn24Thr
- gnomAD 15-67066223-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.559
- CADD 29.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available