A70A (p.Ala70Ala) variant of ALPL (P05186)
A70A (p.Ala70Ala) in ALPL (P05186) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A70A (p.Ala70Ala) variant details
- p.Ala70Ala
- gnomAD 1-21561125-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.282
- CADD 7.99
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available