K58R (p.Lys58Arg) variant of TNNI3 (Troponin I, cardiac muscle)
K58R (p.Lys58Arg) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes structural context.
K58R (p.Lys58Arg) variant details
- p.Lys58Arg
- rs878853955
- ClinGen CA10583865
- ClinVar RCV000226371
- ClinVar RCV000253395
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- AlphaMissense 0.09
- MetaLR 0.74
- MetaSVM 0.49
- PolyPhen-2 0.98
- SIFT 0.36
- EVE 0.18
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Structural context available