A257T (p.Ala257Thr) variant of SMN1 (Survival motor neuron protein)
A257T (p.Ala257Thr) in SMN1 (Survival motor neuron protein) is a missense change. The record also includes variant effect predictions and structural context.
A257T (p.Ala257Thr) variant details
- p.Ala257Thr
- Ensembl rs77871384
- Missense
- MetaLR 0.89
- MetaSVM 0.59
- SIFT 0.31
- Structural context available