L52V (p.Leu52Val) variant of TNNI1 (Troponin I, slow skeletal muscle)
L52V (p.Leu52Val) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L52V (p.Leu52Val) variant details
- p.Leu52Val
- ExAC rs756932579
- gnomAD rs756932579
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.47
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available