E8V (p.Glu8Val) variant of MYO15A (Unconventional myosin-XV)
E8V (p.Glu8Val) 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 0.22 / 1. The record also includes structural context.
E8V (p.Glu8Val) variant details
- p.Glu8Val
- rs2142235361
- ClinGen CA398589243
- ClinVar RCV001929755
- Ensembl rs2142235361
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- ESM-1b 0.00
- AlphaMissense 0.54
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available