Q63K (p.Gln63Lys) variant of TNNI1 (Troponin I, slow skeletal muscle)
Q63K (p.Gln63Lys) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
Q63K (p.Gln63Lys) variant details
- p.Gln63Lys
- TOPMed rs1390950239
- gnomAD rs1390950239
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.48
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available