V12A (p.Val12Ala) variant of PLP1 (Myelin proteolipid protein)
V12A (p.Val12Ala) 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 Hereditary spastic paraplegia 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
V12A (p.Val12Ala) variant details
- p.Val12Ala
- rs1049312344
- ClinGen CA334001106
- ClinVar RCV000699424
- TOPMed rs1049312344
- Uncertain significance
- Hereditary spastic paraplegia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- CADD 20.20
- PolyPhen-2 0.04
- SIFT 0.63
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)