V129I (p.Val129Ile) variant of APP (Amyloid-beta precursor protein)
V129I (p.Val129Ile) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
V129I (p.Val129Ile) variant details
- p.Val129Ile
- cosmic curated COSV10525
- ExAC rs563647959
- gnomAD rs563647959
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.81
- CADD 26.30
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available