G24V (p.Gly24Val) variant of HMBS (Porphobilinogen deaminase)
G24V (p.Gly24Val) 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 1.00 / 1. The record also includes structural context.
G24V (p.Gly24Val) variant details
- p.Gly24Val
- rs2497421927
- ClinGen CA382888139
- ClinVar RCV003575388
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.996
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in AIP)
- UniProt: Uncertain significance (in AIP)
- Structural context available