N68H (p.Asn68His) variant of C9ORF72 (Q96LT7)
N68H (p.Asn68His) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
N68H (p.Asn68His) variant details
- p.Asn68His
- gnomAD rs1819480894
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.29
- CADD 25.90
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available