W42R (p.Trp42Arg) variant of REEP1 (Q9H902)
W42R (p.Trp42Arg) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Spinal muscular atrophy, distal, autosomal recessive, 6; Hereditary spastic para. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
W42R (p.Trp42Arg) variant details
- p.Trp42Arg
- rs2468890850
- ClinGen CA347720098
- ClinVar RCV002280598
- ClinVar RCV002280599
- Pathogenic
- Spinal muscular atrophy, distal, autosomal recessive, 6; Hereditary spastic para
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.93
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Spinal muscular atrophy, distal, autosomal recessive, 6; Heredit)
- EBI: Pathogenic (in SPG31 and HMNR6)
- UniProt: Pathogenic (in SPG31 and HMNR6)
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial… (PMID 21618648)
- Cited in: Further supporting evidence for REEP1 phenotypic and allelic heterogeneity. (PMID 31872057)