V143I (p.Val143Ile) variant of APP (Amyloid-beta precursor protein)
V143I (p.Val143Ile) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V143I (p.Val143Ile) variant details
- p.Val143Ile
- rs200541360
- Ensembl rs200541360
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.33
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.26
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available