C62Y (p.Cys62Tyr) variant of APP (Amyloid-beta precursor protein)
C62Y (p.Cys62Tyr) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
C62Y (p.Cys62Tyr) variant details
- p.Cys62Tyr
- rs2146206105
- ClinGen CA410166887
- ClinVar RCV002224581
- Ensembl rs2146206105
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.75
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available