L30I (p.Leu30Ile) variant of HMBS (Porphobilinogen deaminase)
L30I (p.Leu30Ile) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
L30I (p.Leu30Ile) variant details
- p.Leu30Ile
- gnomAD 11-119088635-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available