I33V (p.Ile33Val) variant of HMBS (Porphobilinogen deaminase)
I33V (p.Ile33Val) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
I33V (p.Ile33Val) variant details
- p.Ile33Val
- gnomAD 11-119088644-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.65
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 22.90
- PolyPhen-2 0.58
- SIFT 0.71
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available
- Literature evidence available