I65V (p.Ile65Val) variant of PLP1 (Myelin proteolipid protein)
I65V (p.Ile65Val) 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 specified; Inborn genetic diseases. 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.
I65V (p.Ile65Val) variant details
- p.Ile65Val
- rs759106420
- ClinGen CA10478944
- ClinVar RCV001817515
- ClinVar RCV003289101
- Uncertain significance
- not specified; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 21.40
- PolyPhen-2 0.08
- SIFT 0.10
- ClinVar: Uncertain significance (not specified; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)