L30P (p.Leu30Pro) variant of DES (Desmin)
L30P (p.Leu30Pro) in DES (Desmin) 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.
L30P (p.Leu30Pro) variant details
- p.Leu30Pro
- gnomAD 2-219418551-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.46
- CADD 23.60
- PolyPhen-2 0.36
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available