S37N (p.Ser37Asn) variant of HMBS (Porphobilinogen deaminase)
S37N (p.Ser37Asn) 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 0.45 / 1. The record also includes structural context.
S37N (p.Ser37Asn) variant details
- p.Ser37Asn
- rs2497426121
- ClinGen CA382888374
- ClinVar RCV003547020
- NCI-TCGA TCGA novel
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- ESM-1b 0.35
- AlphaMissense 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available