R35G (p.Arg35Gly) variant of MYO15A (Unconventional myosin-XV)
R35G (p.Arg35Gly) 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 0.49 / 1. The record also includes population frequency data and structural context.
R35G (p.Arg35Gly) variant details
- p.Arg35Gly
- TOPMed rs1432464116
- gnomAD rs1432464116
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.58
- ESM-1b 0.00
- AlphaMissense 0.96
- CADD 22.00
- PolyPhen-2 0.07
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available