S75R (p.Ser75Arg) variant of HMBS (Porphobilinogen deaminase)
S75R (p.Ser75Arg) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
S75R (p.Ser75Arg) variant details
- p.Ser75Arg
- NCI-TCGA Cosmic COSV5382
- cosmic curated COSV53828
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.99
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available