P23L (p.Pro23Leu) variant of MYL3 (Myosin light chain 3)
P23L (p.Pro23Leu) in MYL3 (Myosin light chain 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- cosmic curated COSV52767
- TOPMed rs1430386484
- gnomAD rs1430386484
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.39
- CADD 24.40
- PolyPhen-2 0.96
- SIFT 0.07
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available