S84R (p.Ser84Arg) variant of G6PD (P11413)
S84R (p.Ser84Arg) in G6PD (P11413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S84R (p.Ser84Arg) variant details
- p.Ser84Arg
- Ensembl rs1603411866
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.63
- CADD 17.80
- PolyPhen-2 0.99
- SIFT 0.05
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available