p.Lys18 Pro21del variant of MYL3 (Myosin light chain 3)
p.Lys18 Pro21del in MYL3 (Myosin light chain 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
p.Lys18 Pro21del variant details
- rs769733070
- gnomAD 3-46863331-AGCTGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.228
- CADD 20.80
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available
- Literature evidence available