S28R (p.Ser28Arg) variant of HMBS (Porphobilinogen deaminase)
S28R (p.Ser28Arg) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in AIP. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
S28R (p.Ser28Arg) variant details
- p.Ser28Arg
- NCI-TCGA Cosmic COSV9959
- cosmic curated COSV99598
- Variant assessed as somatic; moderate impact.
- in AIP
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 1.00
- UniProt: Variant assessed as somatic; moderate impact. (in AIP)
- Structural context available