L14P (p.Leu14Pro) variant of MYO7A (Unconventional myosin-VIIa)
L14P (p.Leu14Pro) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- gnomAD 11-77142731-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.44
- CADD 21.50
- PolyPhen-2 0.28
- SIFT 0.82
- Population evidence available
- Structural context available
- Literature evidence available