K62E (p.Lys62Glu) variant of HMBS (Porphobilinogen deaminase)
K62E (p.Lys62Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
K62E (p.Lys62Glu) variant details
- p.Lys62Glu
- rs2134859047
- ClinGen CA382889274
- ClinVar RCV001892228
- Ensembl rs2134859047
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- ESM-1b 1.00
- AlphaMissense 0.21
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available