F43S (p.Phe43Ser) variant of MYL2 (P10916)
F43S (p.Phe43Ser) in MYL2 (P10916) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
F43S (p.Phe43Ser) variant details
- p.Phe43Ser
- rs764824483
- gnomAD 12-110914302-AAC-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.272
- CADD 6.24
- Population evidence available
- Structural context available
- Literature evidence available