R43C (p.Arg43Cys) variant of TNNI1 (Troponin I, slow skeletal muscle)
R43C (p.Arg43Cys) 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 0.71 / 1. The record also includes population frequency data and structural context.
R43C (p.Arg43Cys) variant details
- p.Arg43Cys
- rs201145849
- NCI-TCGA Cosmic COSV6019
- cosmic curated COSV60190
- 1000Genomes rs201145849
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.72
- CADD 29.50
- PolyPhen-2 0.66
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:BALOCHI population (allele frequency 0.022)
- Structural context available