P3L (p.Pro3Leu) variant of MYL3 (Myosin light chain 3)
P3L (p.Pro3Leu) in MYL3 (Myosin light chain 3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- 1000Genomes rs536404643
- ExAC rs536404643
- gnomAD rs536404643
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.58
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available