D60N (p.Asp60Asn) variant of TGM1 (P22735)
D60N (p.Asp60Asn) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
D60N (p.Asp60Asn) variant details
- p.Asp60Asn
- ExAC rs768306663
- TOPMed rs768306663
- gnomAD rs768306663
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.30
- CADD 23.60
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available