S69C (p.Ser69Cys) variant of HMBS (Porphobilinogen deaminase)
S69C (p.Ser69Cys) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
S69C (p.Ser69Cys) variant details
- p.Ser69Cys
- Ensembl rs1946168816
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.45
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- Structural context available