N65H (p.Asn65His) variant of CHM (P24386)
N65H (p.Asn65His) in CHM (P24386) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
N65H (p.Asn65His) variant details
- p.Asn65His
- gnomAD rs1483238162
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.04
- MetaLR 0.18
- MetaSVM -0.93
- CADD 17.30
- PolyPhen-2 0.16
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available