K18N (p.Lys18Asn) variant of MYL3 (Myosin light chain 3)
K18N (p.Lys18Asn) in MYL3 (Myosin light chain 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
K18N (p.Lys18Asn) variant details
- p.Lys18Asn
- TOPMed rs1325828846
- gnomAD rs1325828846
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.28
- CADD 21.60
- PolyPhen-2 0.78
- SIFT 0.18
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available