L30V (p.Leu30Val) variant of MYO7A (Unconventional myosin-VIIa)
L30V (p.Leu30Val) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L30V (p.Leu30Val) variant details
- p.Leu30Val
- gnomAD 11-77142778-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.38
- CADD 18.50
- PolyPhen-2 0.27
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available