G5D (p.Gly5Asp) variant of HMBS (Porphobilinogen deaminase)
G5D (p.Gly5Asp) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G5D (p.Gly5Asp) variant details
- p.Gly5Asp
- gnomAD 11-119085047-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available
- Literature evidence available