G11W (p.Gly11Trp) variant of MYL2 (P10916)
G11W (p.Gly11Trp) 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 0.46 / 1. The record also includes population frequency data and structural context.
G11W (p.Gly11Trp) variant details
- p.Gly11Trp
- ExAC rs397516402
- TOPMed rs397516402
- gnomAD rs397516402
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.36
- CADD 19.50
- PolyPhen-2 0.15
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available