I53V (p.Ile53Val) variant of HMBS (Porphobilinogen deaminase)
I53V (p.Ile53Val) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
I53V (p.Ile53Val) variant details
- p.Ile53Val
- gnomAD rs1946152976
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.72
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 25.00
- PolyPhen-2 0.91
- SIFT 0.42
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available