T274N (p.Thr274Asn) variant of SMN1 (Survival motor neuron protein)
T274N (p.Thr274Asn) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
T274N (p.Thr274Asn) variant details
- p.Thr274Asn
- rs1291656771
- gnomAD 5-70071325-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- CADD 2.27
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available