V39A (p.Val39Ala) variant of HMBS (Porphobilinogen deaminase)
V39A (p.Val39Ala) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
V39A (p.Val39Ala) variant details
- p.Val39Ala
- gnomAD 11-119088663-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.24
- CADD 22.10
- PolyPhen-2 0.06
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available