N12Y (p.Asn12Tyr) variant of DSP (Desmoplakin)
N12Y (p.Asn12Tyr) in DSP (Desmoplakin) 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 0.46 / 1. The record also includes population frequency data and structural context.
N12Y (p.Asn12Tyr) variant details
- p.Asn12Tyr
- Ensembl rs1757990554
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.42
- AlphaMissense 0.18
- MetaLR 0.32
- MetaSVM -0.42
- CADD 27.60
- PolyPhen-2 0.99
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available