A84V (p.Ala84Val) variant of HMBS (Porphobilinogen deaminase)
A84V (p.Ala84Val) 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 0.84 / 1. The record also includes population frequency data and structural context.
A84V (p.Ala84Val) variant details
- p.Ala84Val
- TOPMed rs1946174844
- gnomAD rs1946174844
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.81
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance (in LENCEP)
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available