M1T (p.Met1Thr) variant of REEP1 (Q9H902)
M1T (p.Met1Thr) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary spastic paraplegia 31; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1681107508
- ClinGen CA347725576
- ClinVar RCV001210927
- ClinVar RCV001268396
- Pathogenic/Likely pathogenic
- Hereditary spastic paraplegia 31; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- MetaLR 0.84
- MetaSVM 0.76
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.97
- ClinVar: Pathogenic/Likely pathogenic (Hereditary spastic paraplegia 31; Inborn genetic diseases; not p)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)