S45W (p.Ser45Trp) variant of HMBS (Porphobilinogen deaminase)
S45W (p.Ser45Trp) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S45W (p.Ser45Trp) variant details
- p.Ser45Trp
- gnomAD 11-119088681-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.12
- CADD 21.20
- PolyPhen-2 0.77
- SIFT 0.14
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available
- Literature evidence available