N105S (p.Asn105Ser) variant of G6PD (P11413)
N105S (p.Asn105Ser) in G6PD (P11413) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
N105S (p.Asn105Ser) variant details
- p.Asn105Ser
- ExAC rs782668959
- gnomAD rs782668959
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.59
- CADD 20.70
- PolyPhen-2 0.18
- SIFT 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available