R35W (p.Arg35Trp) variant of MYO15A (Unconventional myosin-XV)
R35W (p.Arg35Trp) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R35W (p.Arg35Trp) variant details
- p.Arg35Trp
- cosmic curated COSV52751
- TOPMed rs1432464116
- gnomAD rs1432464116
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.59
- ESM-1b 0.57
- AlphaMissense 0.92
- CADD 24.50
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available