N14N (p.Asn14Asn) variant of HMBS (Porphobilinogen deaminase)
N14N (p.Asn14Asn) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
N14N (p.Asn14Asn) variant details
- p.Asn14Asn
- rs369183430
- gnomAD 11-119088263-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.417
- CADD 14.10
- Population evidence available
- Structural context available
- Literature evidence available