I34V (p.Ile34Val) variant of APP (Amyloid-beta precursor protein)
I34V (p.Ile34Val) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
I34V (p.Ile34Val) variant details
- p.Ile34Val
- Ensembl rs1601492248
- Uncertain significance
- Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.17
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Alzheimer disease)
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available