N3H (p.Asn3His) variant of H6PD (O95479)
N3H (p.Asn3His) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
N3H (p.Asn3His) variant details
- p.Asn3His
- gnomAD 1-9240014-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- CADD 9.63
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 2.2e-06)
- Structural context available
- Literature evidence available