A2V (p.Ala2Val) variant of SMN1 (Survival motor neuron protein)
A2V (p.Ala2Val) 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 0.61 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs1554066397
- gnomAD rs1554066397
- ClinGen CA360089498
- ClinVar RCV000785800
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.51
- CADD 23.60
- PolyPhen-2 0.94
- SIFT 0.07
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in SMA2 and SMA3)
- UniProt: Pathogenic (in SMA2 and SMA3)
- Population evidence available
- Structural context available