N6N (p.Asn6Asn) variant of HMBS (Porphobilinogen deaminase)
N6N (p.Asn6Asn) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
N6N (p.Asn6Asn) variant details
- p.Asn6Asn
- gnomAD 11-119085051-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.669
- CADD 9.57
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available
- Literature evidence available