A30V (p.Ala30Val) variant of TNNI3 (Troponin I, cardiac muscle)
A30V (p.Ala30Val) in TNNI3 (Troponin I, cardiac muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- Ensembl rs867738263
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.39
- MetaLR 0.61
- MetaSVM -0.02
- CADD 23.20
- PolyPhen-2 0.12
- SIFT 0.06
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available