P22A (p.Pro22Ala) variant of SPAST (Spastin)
P22A (p.Pro22Ala) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases; Hereditary spastic paraplegia 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P22A (p.Pro22Ala) variant details
- p.Pro22Ala
- rs762209469
- ClinGen CA1600472
- ClinVar RCV000863622
- ClinVar RCV003243356
- Likely benign
- Inborn genetic diseases; Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.25
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.88
- ClinVar: Likely benign (Inborn genetic diseases; Hereditary spastic paraplegia 4)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)