S75A (p.Ser75Ala) variant of HMBS (Porphobilinogen deaminase)
S75A (p.Ser75Ala) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes structural context.
S75A (p.Ser75Ala) variant details
- p.Ser75Ala
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- ESM-1b 0.00
- AlphaMissense 0.33
- UniProt: Variant assessed as somatic; high impact.
- Structural context available