E12A (p.Glu12Ala) variant of HMBS (Porphobilinogen deaminase)
E12A (p.Glu12Ala) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E12A (p.Glu12Ala) variant details
- p.Glu12Ala
- rs759804278
- ClinGen CA6313885
- ClinVar RCV002766335
- ClinVar RCV004700825
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 27.60
- PolyPhen-2 0.02
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available