N122S (p.Asn122Ser) variant of G6PD (P11413)
N122S (p.Asn122Ser) in G6PD (P11413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
N122S (p.Asn122Ser) variant details
- p.Asn122Ser
- gnomAD rs1557230616
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.33
- CADD 4.47
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available