P2L (p.Pro2Leu) variant of TNNI1 (Troponin I, slow skeletal muscle)
P2L (p.Pro2Leu) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- cosmic curated COSV10966
- ExAC rs770804434
- TOPMed rs770804434
- gnomAD rs770804434
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.54
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available