p.Lys5 Pro8delinsAsn variant of MYL3 (Myosin light chain 3)
p.Lys5 Pro8delinsAsn 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, published literature, and structural context.
p.Lys5 Pro8delinsAsn variant details
- rs759666920
- gnomAD 3-46863367-GGGCTC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.511
- CADD 20.70
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available