F64S (p.Phe64Ser) variant of REEP1 (Q9H902)
F64S (p.Phe64Ser) 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; Hereditary spastic paraplegia 31. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
F64S (p.Phe64Ser) variant details
- p.Phe64Ser
- rs2468842582
- ClinGen CA347717661
- ClinVar RCV003191361
- ClinVar RCV003497979
- Uncertain significance
- Inborn genetic diseases; Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)