N14T (p.Asn14Thr) variant of HMBS (Porphobilinogen deaminase)
N14T (p.Asn14Thr) in HMBS (Porphobilinogen deaminase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
N14T (p.Asn14Thr) variant details
- p.Asn14Thr
- rs1592212904
- gnomAD 11-119088258-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.373
- CADD 24.80
- Population evidence available
- Structural context available
- Literature evidence available