M39R (p.Met39Arg) variant of REEP1 (Q9H902)
M39R (p.Met39Arg) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia 31; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
M39R (p.Met39Arg) variant details
- p.Met39Arg
- rs1574052888
- ClinGen CA347720137
- ClinVar RCV000811126
- ClinVar RCV000993057
- Uncertain significance
- Hereditary spastic paraplegia 31; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.06
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.87
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)