G26D (p.Gly26Asp) variant of SMN1 (Survival motor neuron protein)
G26D (p.Gly26Asp) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
G26D (p.Gly26Asp) variant details
- p.Gly26Asp
- gnomAD rs1202831370
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.86
- CADD 24.20
- PolyPhen-2 0.75
- SIFT 0.08
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available