A63P (p.Ala63Pro) variant of ACAN (Aggrecan core protein)
A63P (p.Ala63Pro) in ACAN (Aggrecan core 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 0.28 / 1. The record also includes structural context.
A63P (p.Ala63Pro) variant details
- p.Ala63Pro
- rs749720584
- ClinGen CA393714904
- ClinVar RCV001893533
- 1000Genomes rs749720584
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- AlphaMissense 0.34
- MetaLR 0.02
- MetaSVM -0.92
- PolyPhen-2 0.44
- SIFT 0.04
- EVE 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available