I48I (p.Ile48Ile) variant of MYO7A (Unconventional myosin-VIIa)
I48I (p.Ile48Ile) in MYO7A (Unconventional myosin-VIIa) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
I48I (p.Ile48Ile) variant details
- p.Ile48Ile
- gnomAD 11-77147809-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.342
- CADD 9.96
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available