A38S (p.Ala38Ser) variant of DES (Desmin)
A38S (p.Ala38Ser) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A38S (p.Ala38Ser) variant details
- p.Ala38Ser
- gnomAD 2-219418574-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.12
- CADD 13.20
- PolyPhen-2 0.03
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available