I24V (p.Ile24Val) variant of MYO7A (Unconventional myosin-VIIa)
I24V (p.Ile24Val) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
I24V (p.Ile24Val) variant details
- p.Ile24Val
- ExAC rs200872817
- TOPMed rs200872817
- gnomAD rs200872817
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.25
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available