N3S (p.Asn3Ser) variant of H6PD (O95479)
N3S (p.Asn3Ser) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
N3S (p.Asn3Ser) variant details
- p.Asn3Ser
- gnomAD rs1641114677
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.26
- MetaLR 0.75
- MetaSVM 0.13
- CADD 9.37
- PolyPhen-2 0.00
- SIFT 0.57
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available