D64H (p.Asp64His) variant of TNNI1 (Troponin I, slow skeletal muscle)
D64H (p.Asp64His) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
D64H (p.Asp64His) variant details
- p.Asp64His
- gnomAD rs1435767838
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.76
- CADD 29.00
- PolyPhen-2 0.39
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available