C106F (p.Cys106Phe) variant of REEP1 (Q9H902)
C106F (p.Cys106Phe) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar 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 0.51 / 1. The record also includes population frequency data and structural context.
C106F (p.Cys106Phe) variant details
- p.Cys106Phe
- NCI-TCGA Cosmic COSV9938
- cosmic curated COSV99382
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.33
- CADD 22.80
- PolyPhen-2 0.51
- SIFT 0.13
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available