L52V (p.Leu52Val) variant of TNNI3 (Troponin I, cardiac muscle)
L52V (p.Leu52Val) 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 0.64 / 1. The record also includes structural context.
L52V (p.Leu52Val) variant details
- p.Leu52Val
- rs2147285032
- ClinGen CA407442106
- ClinVar RCV001871530
- Ensembl rs2147285032
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- AlphaMissense 0.16
- MetaLR 0.89
- MetaSVM 0.90
- PolyPhen-2 0.99
- SIFT 0.17
- EVE 0.20
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available