K27N (p.Lys27Asn) variant of HMBS (Porphobilinogen deaminase)
K27N (p.Lys27Asn) in HMBS (Porphobilinogen deaminase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
K27N (p.Lys27Asn) variant details
- p.Lys27Asn
- gnomAD 11-119088301-A-AT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available