R30* (p.Arg30Ter) variant of ALPL (P05186)
R30* (p.Arg30Ter) in ALPL (P05186) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R30* (p.Arg30Ter) variant details
- p.Arg30Ter
- rs1057516334
- ClinGen CA16040712
- NCI-TCGA Cosmic COSV6638
- cosmic curated COSV66380
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.535
- AlphaMissense 0.34
- MetaLR 0.80
- MetaSVM 0.46
- CADD 33.00
- PolyPhen-2 0.79
- SIFT 0.08
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)