L14R (p.Leu14Arg) variant of MYO7A (Unconventional myosin-VIIa)
L14R (p.Leu14Arg) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L14R (p.Leu14Arg) variant details
- p.Leu14Arg
- gnomAD 11-77142731-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.77
- CADD 22.60
- PolyPhen-2 0.05
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available