A8V (p.Ala8Val) variant of TNNI3 (Troponin I, cardiac muscle)
A8V (p.Ala8Val) in TNNI3 (Troponin I, cardiac muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- ExAC rs770640091
- gnomAD rs770640091
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.23
- AlphaMissense 0.10
- MetaLR 0.26
- MetaSVM -0.78
- CADD 23.10
- PolyPhen-2 0.03
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available