L30M (p.Leu30Met) variant of DES (Desmin)
L30M (p.Leu30Met) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L30M (p.Leu30Met) variant details
- p.Leu30Met
- gnomAD 2-219418550-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.23
- CADD 23.00
- PolyPhen-2 0.49
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available