N6H (p.Asn6His) variant of HMBS (Porphobilinogen deaminase)
N6H (p.Asn6His) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
N6H (p.Asn6His) variant details
- p.Asn6His
- gnomAD rs1397152294
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 6.70
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available