M43V (p.Met43Val) variant of APP (Amyloid-beta precursor protein)
M43V (p.Met43Val) 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 type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
M43V (p.Met43Val) variant details
- p.Met43Val
- TOPMed rs2062338414
- Uncertain significance
- Alzheimer disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.89
- CADD 25.30
- PolyPhen-2 0.64
- SIFT 0.00
- ClinVar: Uncertain significance (Alzheimer disease type 1)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available