R43H (p.Arg43His) variant of TNNI1 (Troponin I, slow skeletal muscle)
R43H (p.Arg43His) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R43H (p.Arg43His) variant details
- p.Arg43His
- rs182471625
- NCI-TCGA Cosmic COSV6018
- cosmic curated COSV60188
- 1000Genomes rs182471625
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.60
- CADD 24.30
- PolyPhen-2 0.24
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available