L49F (p.Leu49Phe) variant of MYL2 (P10916)
L49F (p.Leu49Phe) in MYL2 (P10916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
L49F (p.Leu49Phe) variant details
- p.Leu49Phe
- rs1357004896
- gnomAD 12-110914324-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0649
- CADD 2.94
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available