A8D (p.Ala8Asp) variant of HMBS (Porphobilinogen deaminase)
A8D (p.Ala8Asp) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A8D (p.Ala8Asp) variant details
- p.Ala8Asp
- gnomAD rs1341756409
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available