G17R (p.Gly17Arg) variant of MYO7A (Unconventional myosin-VIIa)
G17R (p.Gly17Arg) in MYO7A (Unconventional myosin-VIIa) 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 and structural context.
G17R (p.Gly17Arg) variant details
- p.Gly17Arg
- ExAC rs782098316
- gnomAD rs782098316
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.44
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available