A44V (p.Ala44Val) variant of HMBS (Porphobilinogen deaminase)
A44V (p.Ala44Val) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- gnomAD rs1241174663
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.11
- CADD 23.10
- PolyPhen-2 0.08
- SIFT 0.03
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available