A53T (p.Ala53Thr) variant of MYO7A (Unconventional myosin-VIIa)
A53T (p.Ala53Thr) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A53T (p.Ala53Thr) variant details
- p.Ala53Thr
- gnomAD 11-77147822-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.36
- CADD 24.10
- PolyPhen-2 0.94
- SIFT 0.58
- Population evidence available
- Structural context available
- Literature evidence available