P188S (p.Pro188Ser) variant of APP (Amyloid-beta precursor protein)
P188S (p.Pro188Ser) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
P188S (p.Pro188Ser) variant details
- p.Pro188Ser
- TOPMed rs199744129
- gnomAD rs199744129
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.94
- CADD 29.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available