D142G (p.Asp142Gly) variant of APP (Amyloid-beta precursor protein)
D142G (p.Asp142Gly) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
D142G (p.Asp142Gly) variant details
- p.Asp142Gly
- cosmic curated COSV60998
- ExAC rs779288025
- gnomAD rs779288025
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.79
- CADD 32.00
- PolyPhen-2 0.49
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available