A84V (p.Ala84Val) variant of PLP1 (Myelin proteolipid protein)
A84V (p.Ala84Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
A84V (p.Ala84Val) variant details
- p.Ala84Val
- rs2074498165
- ClinGen CA414102530
- cosmic curated COSV58276
- ClinVar RCV003482802
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- CADD 19.90
- PolyPhen-2 0.03
- SIFT 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available