M96V (p.Met96Val) variant of TRDN (Triadin)
M96V (p.Met96Val) in TRDN (Triadin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
M96V (p.Met96Val) variant details
- p.Met96Val
- rs2114437022
- ClinGen CA365568882
- cosmic curated COSV62122
- ClinVar RCV004523898
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- AlphaMissense 0.04
- MetaLR 0.01
- MetaSVM -0.94
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.04
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available