M1I (p.Met1Ile) variant of ACAN (Aggrecan core protein)
M1I (p.Met1Ile) 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 0.25 / 1. The record also includes structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1057522582
- ClinGen CA16607047
- ClinVar RCV000419116
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- MetaLR 0.03
- MetaSVM -1.12
- PolyPhen-2 0.34
- SIFT 0.06
- EVE 0.13
- MutPred 0.91
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available