G26S (p.Gly26Ser) variant of SMN1 (Survival motor neuron protein)
G26S (p.Gly26Ser) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G26S (p.Gly26Ser) variant details
- p.Gly26Ser
- gnomAD 5-70049761-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.75
- CADD 27.00
- PolyPhen-2 0.95
- SIFT 0.02
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available