T50I (p.Thr50Ile) variant of REEP1 (Q9H902)
T50I (p.Thr50Ile) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
T50I (p.Thr50Ile) variant details
- p.Thr50Ile
- rs886056410
- ClinGen CA10616431
- ClinVar RCV000294516
- ClinVar RCV005268596
- Uncertain significance
- Hereditary spastic paraplegia 31; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.61
- CADD 23.70
- PolyPhen-2 0.22
- SIFT 0.04
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)