P26S (p.Pro26Ser) variant of ALPL (P05186)
P26S (p.Pro26Ser) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
P26S (p.Pro26Ser) variant details
- p.Pro26Ser
- gnomAD 1-21560640-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.72
- CADD 23.70
- PolyPhen-2 0.52
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available