L52Q (p.Leu52Gln) variant of TRDN (Triadin)
L52Q (p.Leu52Gln) in TRDN (Triadin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
L52Q (p.Leu52Gln) variant details
- p.Leu52Gln
- rs1554258798
- ClinGen CA365569176
- NCI-TCGA Cosmic COSV6212
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- AlphaMissense 1.00
- MetaLR 0.55
- MetaSVM 0.22
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available