R28Q (p.Arg28Gln) variant of MYO15A (Unconventional myosin-XV)
R28Q (p.Arg28Gln) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R28Q (p.Arg28Gln) variant details
- p.Arg28Gln
- gnomAD rs1367209759
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.39
- ESM-1b 0.28
- AlphaMissense 0.76
- CADD 25.40
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available