S75C (p.Ser75Cys) variant of HMBS (Porphobilinogen deaminase)
S75C (p.Ser75Cys) 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 and structural context.
S75C (p.Ser75Cys) variant details
- p.Ser75Cys
- gnomAD rs1254014371
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.58
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available