P45A (p.Pro45Ala) variant of HOGA1 (Q86XE5)
P45A (p.Pro45Ala) in HOGA1 (Q86XE5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
P45A (p.Pro45Ala) variant details
- p.Pro45Ala
- rs1380918472
- ClinGen CA377967319
- ClinVar RCV001277805
- ClinVar RCV003770420
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.40
- MetaLR 0.93
- MetaSVM 1.06
- CADD 26.30
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Primary Hyperoxaluria Type 3. (PMID 26401545)