F43A (p.Phe43Ala) variant of MYL2 (P10916)
F43A (p.Phe43Ala) in MYL2 (P10916) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
F43A (p.Phe43Ala) variant details
- p.Phe43Ala
- gnomAD 12-110914303-A-AG
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.197
- CADD 5.42
- Population evidence available
- Structural context available
- Literature evidence available