N88I (p.Asn88Ile) variant of HMBS (Porphobilinogen deaminase)
N88I (p.Asn88Ile) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
N88I (p.Asn88Ile) variant details
- p.Asn88Ile
- gnomAD rs1443863896
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.71
- Structural context available