I33M (p.Ile33Met) variant of HMBS (Porphobilinogen deaminase)
I33M (p.Ile33Met) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
I33M (p.Ile33Met) variant details
- p.Ile33Met
- 1000Genomes rs556420446
- ExAC rs556420446
- gnomAD rs556420446
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.20
- CADD 24.10
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- Structural context available