V23M (p.Val23Met) variant of HMBS (Porphobilinogen deaminase)
V23M (p.Val23Met) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
V23M (p.Val23Met) variant details
- p.Val23Met
- rs776931683
- ClinGen CA6313890
- NCI-TCGA Cosmic COSV9959
- cosmic curated COSV99597
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.86
- CADD 22.80
- PolyPhen-2 0.26
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.083)
- Structural context available