L42W (p.Leu42Trp) variant of HMBS (Porphobilinogen deaminase)
L42W (p.Leu42Trp) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
L42W (p.Leu42Trp) variant details
- p.Leu42Trp
- gnomAD 11-119088672-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available