A130T (p.Ala130Thr) variant of REEP1 (Q9H902)
A130T (p.Ala130Thr) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A130T (p.Ala130Thr) variant details
- p.Ala130Thr
- rs777316624
- ClinGen CA1748757
- NCI-TCGA Cosmic COSV5125
- cosmic curated COSV51256
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.41
- CADD 22.80
- PolyPhen-2 0.99
- SIFT 0.17
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)