D112N (p.Asp112Asn) variant of TRDN (Triadin)
D112N (p.Asp112Asn) in TRDN (Triadin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
D112N (p.Asp112Asn) variant details
- p.Asp112Asn
- cosmic curated COSV62132
- TOPMed rs1781229159
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.43
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.05
- Population evidence available
- Structural context available