P90L (p.Pro90Leu) variant of TNNT2 (Troponin T, cardiac muscle)
P90L (p.Pro90Leu) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1.
P90L (p.Pro90Leu) variant details
- p.Pro90Leu
- rs730881121
- ClinGen CA004176
- ClinVar RCV000159336
- Ensembl rs730881121
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- AlphaMissense 0.73
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic