D8N (p.Asp8Asn) variant of TGM1 (P22735)
D8N (p.Asp8Asn) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
D8N (p.Asp8Asn) variant details
- p.Asp8Asn
- 1000Genomes rs376706308
- ESP rs376706308
- ExAC rs376706308
- TOPMed rs376706308
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.28
- CADD 23.50
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available