R113Q (p.Arg113Gln) variant of REEP1 (Q9H902)
R113Q (p.Arg113Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R113Q (p.Arg113Gln) variant details
- p.Arg113Gln
- rs985433681
- ClinGen CA51436082
- cosmic curated COSV51255
- NCI-TCGA Cosmic COSV5125
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.35
- CADD 22.80
- PolyPhen-2 0.72
- SIFT 0.16
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)