K5R (p.Lys5Arg) variant of MYL3 (Myosin light chain 3)
K5R (p.Lys5Arg) in MYL3 (Myosin light chain 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
K5R (p.Lys5Arg) variant details
- p.Lys5Arg
- gnomAD 3-46863377-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.47
- CADD 24.10
- PolyPhen-2 0.76
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available