T31N (p.Thr31Asn) variant of DSP (Desmoplakin)
T31N (p.Thr31Asn) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T31N (p.Thr31Asn) variant details
- p.Thr31Asn
- gnomAD 6-7542007-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.12
- MetaLR 0.08
- MetaSVM -1.06
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.89
- Population evidence available
- Structural context available
- Literature evidence available