R124Q (p.Arg124Gln) variant of REEP1 (Q9H902)
R124Q (p.Arg124Gln) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Hereditary spastic paraplegia 31. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R124Q (p.Arg124Gln) variant details
- p.Arg124Gln
- rs757087677
- ClinGen CA1748764
- cosmic curated COSV51259
- ClinVar RCV000701587
- Conflicting interpretations
- Inborn genetic diseases; Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.36
- CADD 22.50
- PolyPhen-2 0.95
- SIFT 0.28
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Hereditary spastic paraplegia 31)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- 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)