A7V (p.Ala7Val) variant of HMBS (Porphobilinogen deaminase)
A7V (p.Ala7Val) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- gnomAD 11-119085053-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- Structural context available
- Literature evidence available