H273Q (p.His273Gln) variant of SMN1 (Survival motor neuron protein)
H273Q (p.His273Gln) in SMN1 (Survival motor neuron protein) is a missense change. The record also includes variant effect predictions and structural context.
H273Q (p.His273Gln) variant details
- p.His273Gln
- cosmic curated COSV10468
- Missense
- MetaLR 0.96
- MetaSVM 1.00
- SIFT 0.00
- Structural context available