I24F (p.Ile24Phe) variant of MYO7A (Unconventional myosin-VIIa)
I24F (p.Ile24Phe) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
I24F (p.Ile24Phe) variant details
- p.Ile24Phe
- ExAC rs200872817
- TOPMed rs200872817
- gnomAD rs200872817
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.49
- CADD 23.40
- PolyPhen-2 0.40
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available