M20L (p.Met20Leu) variant of MYL2 (P10916)
M20L (p.Met20Leu) in MYL2 (P10916) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
M20L (p.Met20Leu) variant details
- p.Met20Leu
- rs199474816
- ClinGen CA010504
- ClinVar RCV000119381
- ExAC rs199474816
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- AlphaMissense 0.33
- MetaLR 0.46
- MetaSVM -0.21
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.53
- ClinVar: not provided (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available