G48A (p.Gly48Ala) variant of HMBS (Porphobilinogen deaminase)
G48A (p.Gly48Ala) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G48A (p.Gly48Ala) variant details
- p.Gly48Ala
- gnomAD rs1279765868
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 22.80
- PolyPhen-2 0.25
- SIFT 0.02
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available