I44T (p.Ile44Thr) variant of REEP1 (Q9H902)
I44T (p.Ile44Thr) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
I44T (p.Ile44Thr) variant details
- p.Ile44Thr
- rs2468890818
- ClinGen CA347720067
- ClinVar RCV002294929
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.80
- CADD 24.00
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)