I32V (p.Ile32Val) variant of REEP1 (Q9H902)
I32V (p.Ile32Val) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
I32V (p.Ile32Val) variant details
- p.Ile32Val
- rs745678615
- ClinGen CA1748846
- NCI-TCGA Cosmic COSV5125
- cosmic curated COSV51257
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.32
- CADD 17.80
- PolyPhen-2 0.28
- SIFT 1.00
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)