A2V (p.Ala2Val) variant of PRNP (Major prion protein)
A2V (p.Ala2Val) in PRNP (Major prion protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inherited prion disease; Huntington disease-like 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs748227837
- ClinGen CA9751991
- cosmic curated COSV10823
- NCI-TCGA Cosmic COSV6517
- Conflicting interpretations
- Inherited prion disease; Huntington disease-like 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.16
- CADD 7.63
- PolyPhen-2 0.02
- SIFT 0.53
- ClinVar: Conflicting classifications of pathogenicity (Inherited prion disease; Huntington disease-like 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Genetic Prion Disease. (PMID 20301407)