E80K (p.Glu80Lys) variant of HMBS (Porphobilinogen deaminase)
E80K (p.Glu80Lys) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and structural context.
E80K (p.Glu80Lys) variant details
- p.Glu80Lys
- gnomAD rs1456465318
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:PATHAN population (allele frequency 0.083)
- Structural context available