Q50K (p.Gln50Lys) variant of HMBS (Porphobilinogen deaminase)
Q50K (p.Gln50Lys) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Q50K (p.Gln50Lys) variant details
- p.Gln50Lys
- gnomAD 11-119088695-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 19.40
- PolyPhen-2 0.11
- SIFT 0.63
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available
- Literature evidence available