H78Q (p.His78Gln) variant of ALPL (P05186)
H78Q (p.His78Gln) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
H78Q (p.His78Gln) variant details
- p.His78Gln
- TOPMed rs1375160574
- gnomAD rs1375160574
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.32
- CADD 15.40
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available