V64I (p.Val64Ile) variant of ALPL (P05186)
V64I (p.Val64Ile) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
V64I (p.Val64Ile) variant details
- p.Val64Ile
- gnomAD 1-21561105-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.44
- CADD 20.20
- PolyPhen-2 0.07
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available