R116C (p.Arg116Cys) variant of APP (Amyloid-beta precursor protein)
R116C (p.Arg116Cys) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
R116C (p.Arg116Cys) variant details
- p.Arg116Cys
- cosmic curated COSV10648
- TOPMed rs2061787807
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.85
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available