V39M (p.Val39Met) variant of HMBS (Porphobilinogen deaminase)
V39M (p.Val39Met) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V39M (p.Val39Met) variant details
- p.Val39Met
- gnomAD 11-119088662-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.75
- ESM-1b 0.09
- AlphaMissense 0.33
- CADD 24.20
- PolyPhen-2 0.95
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available