V22M (p.Val22Met) variant of HOGA1 (Q86XE5)
V22M (p.Val22Met) in HOGA1 (Q86XE5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
V22M (p.Val22Met) variant details
- p.Val22Met
- rs1425518232
- ClinGen CA377967169
- ClinVar RCV001043058
- ClinVar RCV001827260
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.60
- MetaSVM -0.34
- CADD 0.49
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Primary Hyperoxaluria Type 3. (PMID 26401545)