V210I (p.Val210Ile) variant of PRNP (Major prion protein)
V210I (p.Val210Ile) in PRNP (Major prion protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic/pathogenic, low pen in the context of Inborn genetic diseases; Kuru, susceptibility to; Huntington disease-like 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
V210I (p.Val210Ile) variant details
- p.Val210Ile
- rs74315407
- ClinGen CA256781
- cosmic curated COSV65173
- ClinVar RCV000014342
- Pathogenic/Likely pathogenic/Pathogenic, low pen
- Inborn genetic diseases; Kuru, susceptibility to; Huntington disease-like 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.58
- CADD 18.40
- PolyPhen-2 0.33
- SIFT 0.61
- ClinVar: Pathogenic/Likely pathogenic/Pathogenic, low pen (Inborn genetic diseases; Kuru, susceptibility to; Huntington dis)
- EBI: Pathogenic (in CJD)
- UniProt: Pathogenic (in CJD)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Mutation at codon 210 (V210I) of the prion protein gene in a North African patient with Creutzfeldt-Jakob disease. (PMID 10526198)
- Cited in: Quantifying prion disease penetrance using large population control cohorts. (PMID 26791950)