L8L (p.Leu8Leu) variant of ALPL (P05186)
L8L (p.Leu8Leu) in ALPL (P05186) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L8L (p.Leu8Leu) variant details
- p.Leu8Leu
- rs774559268
- gnomAD 1-21554103-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.299
- CADD 8.97
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Structural context available
- Literature evidence available