P34T (p.Pro34Thr) variant of SPAST (Spastin)
P34T (p.Pro34Thr) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary spastic paraplegia 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P34T (p.Pro34Thr) variant details
- p.Pro34Thr
- rs749021726
- ClinGen CA1600483
- ClinVar RCV003634241
- ExAC rs749021726
- Likely benign
- Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.16
- CADD 18.40
- PolyPhen-2 0.03
- SIFT 0.28
- ClinVar: Likely benign (Hereditary spastic paraplegia 4)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)