N6S (p.Asn6Ser) variant of HMBS (Porphobilinogen deaminase)
N6S (p.Asn6Ser) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
N6S (p.Asn6Ser) variant details
- p.Asn6Ser
- gnomAD 11-119085050-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 2.61
- PolyPhen-2 0.00
- SIFT 0.93
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available
- Literature evidence available