A11D (p.Ala11Asp) variant of MYO15A (Unconventional myosin-XV)
A11D (p.Ala11Asp) 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 0.44 / 1. The record also includes population frequency data and structural context.
A11D (p.Ala11Asp) variant details
- p.Ala11Asp
- rs1264271225
- ClinGen CA398589264
- ClinVar RCV002281395
- gnomAD rs1264271225
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.47
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available