K76N (p.Lys76Asn) variant of TNNT2 (Troponin T, cardiac muscle)
K76N (p.Lys76Asn) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1.
K76N (p.Lys76Asn) variant details
- p.Lys76Asn
- rs727504869
- ClinGen CA004120
- ClinVar RCV000156231
- ExAC rs727504869
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- AlphaMissense 0.78
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.52
- ClinVar: Uncertain significance (not specified)
- EBI: Likely benign
- UniProt: Likely benign