L42S (p.Leu42Ser) variant of H6PD (O95479)
L42S (p.Leu42Ser) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
L42S (p.Leu42Ser) variant details
- p.Leu42Ser
- gnomAD rs1340364931
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.95
- MetaLR 0.98
- MetaSVM 1.06
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available