I113V (p.Ile113Val) variant of TRDN (Triadin)
I113V (p.Ile113Val) in TRDN (Triadin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
I113V (p.Ile113Val) variant details
- p.Ile113Val
- gnomAD rs1781228554
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.18
- CADD 22.90
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available