G34V (p.Gly34Val) variant of PLP1 (Myelin proteolipid protein)
G34V (p.Gly34Val) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hereditary spastic paraplegia 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
G34V (p.Gly34Val) variant details
- p.Gly34Val
- rs778783545
- ClinGen CA10478909
- ClinVar RCV003622685
- ExAC rs778783545
- Benign
- Hereditary spastic paraplegia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Benign (Hereditary spastic paraplegia 2)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)