P14A (p.Pro14Ala) variant of TNNI3 (Troponin I, cardiac muscle)
P14A (p.Pro14Ala) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
P14A (p.Pro14Ala) variant details
- p.Pro14Ala
- rs2085738832
- ClinGen CA407443197
- ClinVar RCV003749458
- TOPMed rs2085738832
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- AlphaMissense 0.05
- MetaLR 0.90
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.17
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available