N4Y (p.Asn4Tyr) variant of DSP (Desmoplakin)
N4Y (p.Asn4Tyr) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
N4Y (p.Asn4Tyr) variant details
- p.Asn4Tyr
- gnomAD 6-7541925-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.16
- CADD 26.70
- PolyPhen-2 0.54
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Literature evidence available