P144Q (p.Pro144Gln) variant of SMN1 (Survival motor neuron protein)
P144Q (p.Pro144Gln) in SMN1 (Survival motor neuron protein) is a missense change. The record also includes variant effect predictions and structural context.
P144Q (p.Pro144Gln) variant details
- p.Pro144Gln
- cosmic curated COSV63621
- Missense
- MetaLR 0.95
- MetaSVM 1.20
- SIFT 0.05
- Structural context available