P17L (p.Pro17Leu) variant of MYL3 (Myosin light chain 3)
P17L (p.Pro17Leu) in MYL3 (Myosin light chain 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P17L (p.Pro17Leu) variant details
- p.Pro17Leu
- gnomAD 3-46863341-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.24
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available