A132V (p.Ala132Val) variant of REEP1 (Q9H902)
A132V (p.Ala132Val) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A132V (p.Ala132Val) variant details
- p.Ala132Val
- rs1235877574
- ClinGen CA347715866
- cosmic curated COSV10803
- ClinVar RCV003601975
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.53
- CADD 23.20
- PolyPhen-2 0.93
- SIFT 0.28
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)