A7E (p.Ala7Glu) variant of HMBS (Porphobilinogen deaminase)
A7E (p.Ala7Glu) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A7E (p.Ala7Glu) variant details
- p.Ala7Glu
- TOPMed rs1315378927
- gnomAD rs1315378927
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available