A67T (p.Ala67Thr) variant of HMBS (Porphobilinogen deaminase)
A67T (p.Ala67Thr) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
A67T (p.Ala67Thr) variant details
- p.Ala67Thr
- cosmic curated COSV53829
- gnomAD rs1487093855
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.48
- CADD 32.00
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available