G14R (p.Gly14Arg) variant of MYO15A (Unconventional myosin-XV)
G14R (p.Gly14Arg) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G14R (p.Gly14Arg) variant details
- p.Gly14Arg
- gnomAD 17-18118840-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.44
- ESM-1b 0.95
- AlphaMissense 0.65
- CADD 23.10
- PolyPhen-2 0.10
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Literature evidence available