V52A (p.Val52Ala) variant of HOGA1 (Q86XE5)
V52A (p.Val52Ala) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
V52A (p.Val52Ala) variant details
- p.Val52Ala
- TOPMed rs1241020419
- gnomAD rs1241020419
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.57
- MetaLR 0.93
- MetaSVM 1.08
- CADD 28.20
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available