A21P (p.Ala21Pro) variant of DES (Desmin)
A21P (p.Ala21Pro) in DES (Desmin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A21P (p.Ala21Pro) variant details
- p.Ala21Pro
- ExAC rs749447320
- gnomAD rs749447320
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.38
- CADD 16.70
- PolyPhen-2 0.38
- SIFT 0.81
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available