R19G (p.Arg19Gly) variant of HMBS (Porphobilinogen deaminase)
R19G (p.Arg19Gly) 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.
R19G (p.Arg19Gly) variant details
- p.Arg19Gly
- TOPMed rs776517940
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 23.20
- PolyPhen-2 0.07
- SIFT 0.10
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available