A55T (p.Ala55Thr) variant of TRDN (Triadin)
A55T (p.Ala55Thr) in TRDN (Triadin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
A55T (p.Ala55Thr) variant details
- p.Ala55Thr
- gnomAD rs1230796592
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.69
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available