A30S (p.Ala30Ser) variant of TNNI3 (Troponin I, cardiac muscle)
A30S (p.Ala30Ser) in TNNI3 (Troponin I, cardiac muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A30S (p.Ala30Ser) variant details
- p.Ala30Ser
- rs1599911228
- gnomAD 19-55156355-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 4.28
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available