A8V (p.Ala8Val) variant of HMBS (Porphobilinogen deaminase)
A8V (p.Ala8Val) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- gnomAD 11-119085056-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 23.70
- PolyPhen-2 0.18
- SIFT 0.02
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Literature evidence available