S75N (p.Ser75Asn) variant of HMBS (Porphobilinogen deaminase)
S75N (p.Ser75Asn) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
S75N (p.Ser75Asn) variant details
- p.Ser75Asn
- rs767542253
- ClinGen CA6313982
- ClinVar RCV002019787
- ExAC rs767542253
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.60
- CADD 24.70
- PolyPhen-2 0.61
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available