G11D (p.Gly11Asp) variant of ALPL (P05186)
G11D (p.Gly11Asp) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
G11D (p.Gly11Asp) variant details
- p.Gly11Asp
- rs1287863636
- ClinGen CA338876382
- ClinVar RCV003834392
- gnomAD rs1287863636
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.61
- CADD 19.30
- PolyPhen-2 0.26
- SIFT 0.63
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available