R67W (p.Arg67Trp) variant of TNNI1 (Troponin I, slow skeletal muscle)
R67W (p.Arg67Trp) 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 0.68 / 1. The record also includes population frequency data and structural context.
R67W (p.Arg67Trp) variant details
- p.Arg67Trp
- rs2296695
- cosmic curated COSV60188
- UniProt VAR 052403
- 1000Genomes rs2296695
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.79
- CADD 29.50
- PolyPhen-2 0.88
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact. (in dbSNP:rs2296695)
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available