P20P (p.Pro20Pro) variant of ALPL (P05186)
P20P (p.Pro20Pro) in ALPL (P05186) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P20P (p.Pro20Pro) variant details
- p.Pro20Pro
- rs925035427
- gnomAD 1-21554141-A-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.454
- CADD 22.20
- Population evidence available
- Structural context available
- Literature evidence available