S57C (p.Ser57Cys) variant of HMBS (Porphobilinogen deaminase)
S57C (p.Ser57Cys) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
S57C (p.Ser57Cys) variant details
- p.Ser57Cys
- gnomAD rs1254756519
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.22
- CADD 27.60
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available