F51S (p.Phe51Ser) variant of HMBS (Porphobilinogen deaminase)
F51S (p.Phe51Ser) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
F51S (p.Phe51Ser) variant details
- p.Phe51Ser
- gnomAD rs1178881026
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 32.00
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available