N3K (p.Asn3Lys) variant of H6PD (O95479)
N3K (p.Asn3Lys) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
N3K (p.Asn3Lys) variant details
- p.Asn3Lys
- gnomAD 1-9240016-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- CADD 3.69
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available