M51L (p.Met51Leu) variant of ADD1 (Alpha-adducin)
M51L (p.Met51Leu) in ADD1 (Alpha-adducin) 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.
M51L (p.Met51Leu) variant details
- p.Met51Leu
- gnomAD 4-2876065-C-CTT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.275
- CADD 27.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available