G24A (p.Gly24Ala) variant of HMBS (Porphobilinogen deaminase)
G24A (p.Gly24Ala) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G24A (p.Gly24Ala) variant details
- p.Gly24Ala
- gnomAD 11-119088292-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.82
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available