L36C (p.Leu36Cys) variant of MYO15A (Unconventional myosin-XV)
L36C (p.Leu36Cys) in MYO15A (Unconventional myosin-XV) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L36C (p.Leu36Cys) variant details
- p.Leu36Cys
- rs768198816
- gnomAD 17-18118903-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.493
- CADD 24.40
- Population evidence available
- Structural context available
- Literature evidence available