L124I (p.Leu124Ile) variant of CHM (P24386)
L124I (p.Leu124Ile) in CHM (P24386) 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 0.31 / 1. The record also includes structural context.
L124I (p.Leu124Ile) variant details
- p.Leu124Ile
- rs765359472
- ClinGen CA413787332
- ClinVar RCV001994382
- ExAC rs765359472
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- AlphaMissense 0.06
- MetaLR 0.09
- MetaSVM -1.05
- PolyPhen-2 0.08
- SIFT 0.39
- MutPred 0.52
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available