F121L (p.Phe121Leu) variant of REEP1 (Q9H902)
F121L (p.Phe121Leu) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
F121L (p.Phe121Leu) variant details
- p.Phe121Leu
- rs1676308997
- ClinGen CA347716111
- ClinVar RCV003846363
- gnomAD rs1676308997
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.50
- CADD 23.10
- PolyPhen-2 0.39
- SIFT 0.29
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)