P82H (p.Pro82His) variant of TNNT2 (Troponin T, cardiac muscle)
P82H (p.Pro82His) 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 0.76 / 1.
P82H (p.Pro82His) variant details
- p.Pro82His
- rs386352374
- ClinGen CA004134
- ClinVar RCV000122466
- gnomAD rs386352374
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- AlphaMissense 0.41
- MetaLR 0.99
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance