A48T (p.Ala48Thr) variant of TRDN (Triadin)
A48T (p.Ala48Thr) in TRDN (Triadin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A48T (p.Ala48Thr) variant details
- p.Ala48Thr
- gnomAD rs1782549874
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.29
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available