A4S (p.Ala4Ser) variant of DES (Desmin)
A4S (p.Ala4Ser) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- gnomAD 2-219418472-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.14
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available