H83N (p.His83Asn) variant of HMBS (Porphobilinogen deaminase)
H83N (p.His83Asn) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
H83N (p.His83Asn) variant details
- p.His83Asn
- Ensembl rs1946174660
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- ESM-1b 0.00
- AlphaMissense 0.07
- Structural context available