A11V (p.Ala11Val) variant of MYO15A (Unconventional myosin-XV)
A11V (p.Ala11Val) in MYO15A (Unconventional myosin-XV) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- gnomAD rs1264271225
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.33
- CADD 23.10
- PolyPhen-2 0.57
- SIFT 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available