K9E (p.Lys9Glu) variant of MYO15A (Unconventional myosin-XV)
K9E (p.Lys9Glu) in MYO15A (Unconventional myosin-XV) 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 0.23 / 1. The record also includes structural context.
K9E (p.Lys9Glu) variant details
- p.Lys9Glu
- rs2545171632
- ClinGen CA398589247
- ClinVar RCV002284741
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- ESM-1b 0.00
- AlphaMissense 0.50
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available