D6N (p.Asp6Asn) variant of MYO15A (Unconventional myosin-XV)
D6N (p.Asp6Asn) in MYO15A (Unconventional myosin-XV) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes structural context.
D6N (p.Asp6Asn) variant details
- p.Asp6Asn
- gnomAD rs1283503325
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- ESM-1b 0.00
- AlphaMissense 0.36
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available