M129V (p.Met129Val) variant of PRNP (Major prion protein)
M129V (p.Met129Val) in PRNP (Major prion protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Kuru, susceptibility to; Huntington disease-like 1; Spongiform encephalopathy wi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
M129V (p.Met129Val) variant details
- p.Met129Val
- rs1799990
- ClinGen CA123088
- cosmic curated COSV65173
- ClinVar RCV000014331
- Likely benign
- Kuru, susceptibility to; Huntington disease-like 1; Spongiform encephalopathy wi
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.52
- CADD 16.30
- PolyPhen-2 0.03
- SIFT 0.10
- ClinVar: Likely benign (Huntington disease-like 1)
- EBI: Pathogenic (protective factor against acquired, sporadic and some inherited)
- UniProt: Pathogenic (protective factor against acquired, sporadic and some inherited)
- Most common in the HGDP:COLOMBIAN population (allele frequency 0.83)
- Structural context available
- Cited in: The genetics of prions--a contradiction in terms? (PMID 10437852)
- Cited in: Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the… (PMID 10581230)