N51K (p.Asn51Lys) variant of TNNC1 (P63316)
N51K (p.Asn51Lys) in TNNC1 (P63316) 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 0.46 / 1. The record also includes structural context.
N51K (p.Asn51Lys) variant details
- p.Asn51Lys
- rs1057518507
- ClinGen CA16042521
- ClinVar RCV000413622
- Ensembl rs1057518507
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- AlphaMissense 0.91
- MetaLR 0.50
- MetaSVM -0.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.22
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available