A9P (p.Ala9Pro) variant of HMBS (Porphobilinogen deaminase)
A9P (p.Ala9Pro) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A9P (p.Ala9Pro) variant details
- p.Ala9Pro
- gnomAD 11-119085058-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the HGDP:PATHAN population (allele frequency 0.083)
- Structural context available
- Literature evidence available