D65H (p.Asp65His) variant of HMBS (Porphobilinogen deaminase)
D65H (p.Asp65His) 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 0.92 / 1. The record also includes population frequency data and structural context.
D65H (p.Asp65His) variant details
- p.Asp65His
- rs368336004
- ClinGen CA6313958
- ClinVar RCV001340297
- ESP rs368336004
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- ESM-1b 1.00
- AlphaMissense 0.64
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available