L12I (p.Leu12Ile) variant of MET (P08581)
L12I (p.Leu12Ile) in MET (P08581) 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 0.34 / 1. The record also includes structural context.
L12I (p.Leu12Ile) variant details
- p.Leu12Ile
- rs764455004
- ClinGen CA368968202
- ClinVar RCV003238617
- ExAC rs764455004
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- AlphaMissense 0.08
- MetaLR 0.25
- MetaSVM -0.74
- PolyPhen-2 0.00
- SIFT 0.26
- EVE 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available