R37H (p.Arg37His) variant of TNNI1 (Troponin I, slow skeletal muscle)
R37H (p.Arg37His) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. Clinical records from ClinVar 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 0.42 / 1. The record also includes population frequency data and structural context.
R37H (p.Arg37His) variant details
- p.Arg37His
- rs150769331
- ESP rs150769331
- ExAC rs150769331
- TOPMed rs150769331
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.32
- CADD 23.20
- PolyPhen-2 0.21
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available