V2A (p.Val2Ala) variant of MYO7A (Unconventional myosin-VIIa)
V2A (p.Val2Ala) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
V2A (p.Val2Ala) variant details
- p.Val2Ala
- gnomAD 11-77130639-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.42
- CADD 24.00
- PolyPhen-2 0.68
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available