P25A (p.Pro25Ala) variant of SPAST (Spastin)
P25A (p.Pro25Ala) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Hereditary spastic paraplegia 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
P25A (p.Pro25Ala) variant details
- p.Pro25Ala
- rs758920536
- ClinGen CA346601307
- ClinVar RCV002577227
- ClinVar RCV002577228
- Conflicting interpretations
- Inborn genetic diseases; Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.31
- CADD 19.80
- PolyPhen-2 0.03
- SIFT 0.54
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Hereditary spastic paraplegia 4)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)