R23K (p.Arg23Lys) variant of SPAST (Spastin)
R23K (p.Arg23Lys) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Hereditary spastic paraplegia; Hereditary spastic paraplegia 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R23K (p.Arg23Lys) variant details
- p.Arg23Lys
- rs558882317
- ClinGen CA1600473
- ClinVar RCV000842632
- ClinVar RCV001521667
- Benign/Likely benign
- Hereditary spastic paraplegia; Hereditary spastic paraplegia 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.26
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign/Likely benign (Hereditary spastic paraplegia; Hereditary spastic paraplegia 4;)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Spastic Paraplegia 4. (PMID 20301339)