N28H (p.Asn28His) variant of CHAMP1 (Q96JM3)
N28H (p.Asn28His) in CHAMP1 (Q96JM3) 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 and structural context.
N28H (p.Asn28His) variant details
- p.Asn28His
- gnomAD rs1555379330
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.19
- ESM-1b 0.66
- AlphaMissense 0.19
- MetaLR 0.01
- MetaSVM -0.56
- CADD 24.50
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available