V17L (p.Val17Leu) variant of MYL2 (P10916)
V17L (p.Val17Leu) in MYL2 (P10916) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
V17L (p.Val17Leu) variant details
- p.Val17Leu
- ExAC rs730880943
- TOPMed rs730880943
- gnomAD rs730880943
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.78
- CADD 25.70
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available