Q50R (p.Gln50Arg) variant of HMBS (Porphobilinogen deaminase)
Q50R (p.Gln50Arg) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar 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 0.46 / 1. The record also includes population frequency data and structural context.
Q50R (p.Gln50Arg) variant details
- p.Gln50Arg
- 1000Genomes rs765251645
- ExAC rs765251645
- gnomAD rs765251645
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.41
- ESM-1b 0.38
- AlphaMissense 0.08
- MetaLR 0.93
- MetaSVM 1.06
- CADD 21.40
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available