V20E (p.Val20Glu) variant of HMBS (Porphobilinogen deaminase)
V20E (p.Val20Glu) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
V20E (p.Val20Glu) variant details
- p.Val20Glu
- gnomAD 11-119088280-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.36
- CADD 27.90
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- Structural context available
- Literature evidence available