P47S (p.Pro47Ser) variant of HMBS (Porphobilinogen deaminase)
P47S (p.Pro47Ser) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
P47S (p.Pro47Ser) variant details
- p.Pro47Ser
- TOPMed rs1226108681
- gnomAD rs1226108681
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.81
- ESM-1b 0.65
- AlphaMissense 0.18
- CADD 23.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available