L49Q (p.Leu49Gln) variant of HMBS (Porphobilinogen deaminase)
L49Q (p.Leu49Gln) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L49Q (p.Leu49Gln) variant details
- p.Leu49Gln
- gnomAD 11-119088693-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.76
- ESM-1b 0.63
- AlphaMissense 0.19
- CADD 24.80
- PolyPhen-2 0.68
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available