L42F (p.Leu42Phe) variant of HMBS (Porphobilinogen deaminase)
L42F (p.Leu42Phe) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
L42F (p.Leu42Phe) variant details
- p.Leu42Phe
- ExAC rs773769579
- gnomAD rs773769579
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.72
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available