D116N (p.Asp116Asn) variant of REEP1 (Q9H902)
D116N (p.Asp116Asn) 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.
D116N (p.Asp116Asn) variant details
- p.Asp116Asn
- cosmic curated COSV51257
- ExAC rs201343132
- TOPMed rs201343132
- gnomAD rs201343132
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.33
- CADD 23.00
- PolyPhen-2 0.96
- SIFT 0.11
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available