A40T (p.Ala40Thr) variant of HMBS (Porphobilinogen deaminase)
A40T (p.Ala40Thr) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar 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 0.44 / 1. The record also includes population frequency data and structural context.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- gnomAD rs1362244070
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.46
- ESM-1b 0.25
- AlphaMissense 0.08
- CADD 18.60
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available