D56N (p.Asp56Asn) variant of REEP1 (Q9H902)
D56N (p.Asp56Asn) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Neuronopathy, distal hereditary motor, type 5B; Heredit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
D56N (p.Asp56Asn) variant details
- p.Asp56Asn
- rs1060503493
- ClinGen CA16611113
- ClinVar RCV000465053
- ClinVar RCV005001063
- Uncertain significance
- Inborn genetic diseases; Neuronopathy, distal hereditary motor, type 5B; Heredit
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Uncertain significance (Inborn genetic diseases; Neuronopathy, distal hereditary motor,)
- EBI: Pathogenic (in SPG31)
- UniProt: Pathogenic (in SPG31)
- Structural context available
- Cited in: REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial… (PMID 21618648)
- Cited in: Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology. (PMID 24478229)