G5C (p.Gly5Cys) variant of HMBS (Porphobilinogen deaminase)
G5C (p.Gly5Cys) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G5C (p.Gly5Cys) variant details
- p.Gly5Cys
- gnomAD 11-119085046-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.46
- ESM-1b 0.19
- AlphaMissense 0.12
- CADD 23.00
- PolyPhen-2 0.26
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available