V29L (p.Val29Leu) variant of PLP1 (Myelin proteolipid protein)
V29L (p.Val29Leu) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases; Hereditary spastic paraplegia 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
V29L (p.Val29Leu) variant details
- p.Val29Leu
- rs1376158201
- ClinGen CA414102007
- cosmic curated COSV58275
- ClinVar RCV001207367
- Uncertain significance
- not provided; Inborn genetic diseases; Hereditary spastic paraplegia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- CADD 23.00
- PolyPhen-2 0.21
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Hereditary spastic parapl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)