A2V (p.Ala2Val) variant of SPG7 (Q9UQ90)
A2V (p.Ala2Val) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia 7; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- TOPMed rs973170664
- gnomAD rs973170664
- Uncertain significance
- Hereditary spastic paraplegia 7; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 7; Inborn genetic diseases)
- UniProt: Uncertain significance (in dbSNP:rs535030441)
- Most common in the HGDP:FRENCH population (allele frequency 0.019)