G48R (p.Gly48Arg) variant of HMBS (Porphobilinogen deaminase)
G48R (p.Gly48Arg) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G48R (p.Gly48Arg) variant details
- p.Gly48Arg
- gnomAD 11-119088689-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.55
- ESM-1b 0.36
- AlphaMissense 0.17
- CADD 23.50
- PolyPhen-2 0.34
- SIFT 0.02
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available
- Literature evidence available