P26L (p.Pro26Leu) variant of SETX (Helicase senataxin)
P26L (p.Pro26Leu) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Hereditary spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- rs377617692
- ClinGen CA5298138
- ClinVar RCV001848131
- ClinVar RCV003120722
- Conflicting interpretations
- Inborn genetic diseases; not provided; Hereditary spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.26
- AlphaMissense 0.07
- MetaLR 0.20
- MetaSVM -0.81
- CADD 0.00
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Hereditary spastic parapl)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)