V73M (p.Val73Met) variant of TNNI1 (Troponin I, slow skeletal muscle)
V73M (p.Val73Met) in TNNI1 (Troponin I, slow skeletal 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 0.74 / 1. The record also includes population frequency data and structural context.
V73M (p.Val73Met) variant details
- p.Val73Met
- TOPMed rs1055611269
- gnomAD rs1055611269
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.79
- CADD 25.10
- PolyPhen-2 0.68
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available