V23A (p.Val23Ala) variant of HMBS (Porphobilinogen deaminase)
V23A (p.Val23Ala) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
V23A (p.Val23Ala) variant details
- p.Val23Ala
- TOPMed rs1432928162
- gnomAD rs1432928162
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.91
- ESM-1b 0.42
- AlphaMissense 0.75
- CADD 28.10
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available