Y14S (p.Tyr14Ser) variant of DES (Desmin)
Y14S (p.Tyr14Ser) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
Y14S (p.Tyr14Ser) variant details
- p.Tyr14Ser
- Ensembl rs2125165706
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.92
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available