V7I (p.Val7Ile) variant of ALPL (P05186)
V7I (p.Val7Ile) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V7I (p.Val7Ile) variant details
- p.Val7Ile
- gnomAD 1-21554100-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.21
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available