H70Q (p.His70Gln) variant of TNNI1 (Troponin I, slow skeletal muscle)
H70Q (p.His70Gln) 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 0.44 / 1. The record also includes population frequency data and structural context.
H70Q (p.His70Gln) variant details
- p.His70Gln
- cosmic curated COSV60188
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.67
- CADD 7.14
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available