A26T (p.Ala26Thr) variant of REEP1 (Q9H902)
A26T (p.Ala26Thr) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- rs1299952460
- ClinGen CA347722583
- ClinVar RCV000823273
- ClinVar RCV002269321
- Uncertain significance
- Hereditary spastic paraplegia 31; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.80
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31; Inborn genetic diseases; not p)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)