K30R (p.Lys30Arg) variant of TRDN (Triadin)
K30R (p.Lys30Arg) in TRDN (Triadin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
K30R (p.Lys30Arg) variant details
- p.Lys30Arg
- ExAC rs781494795
- TOPMed rs781494795
- gnomAD rs781494795
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.14
- CADD 23.00
- PolyPhen-2 0.61
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available