P86L (p.Pro86Leu) variant of TNNT2 (Troponin T, cardiac muscle)
P86L (p.Pro86Leu) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data.
P86L (p.Pro86Leu) variant details
- p.Pro86Leu
- rs2102265293
- ClinGen CA344206698
- ClinVar RCV002261624
- Ensembl rs2102265293
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- CADD 28.50
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)