D32N (p.Asp32Asn) variant of TGM1 (P22735)
D32N (p.Asp32Asn) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D32N (p.Asp32Asn) variant details
- p.Asp32Asn
- TOPMed rs1474889585
- gnomAD rs1474889585
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.28
- CADD 15.50
- PolyPhen-2 0.05
- SIFT 0.32
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available