L49L (p.Leu49Leu) variant of MYL2 (P10916)
L49L (p.Leu49Leu) in MYL2 (P10916) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
L49L (p.Leu49Leu) variant details
- p.Leu49Leu
- rs766341489
- gnomAD 12-110914322-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.0418
- CADD 0.18
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available