R67Q (p.Arg67Gln) variant of TNNI1 (Troponin I, slow skeletal muscle)
R67Q (p.Arg67Gln) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R67Q (p.Arg67Gln) variant details
- p.Arg67Gln
- cosmic curated COSV60189
- gnomAD rs1326534909
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.38
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available