N76D (p.Asn76Asp) variant of CHAMP1 (Q96JM3)
N76D (p.Asn76Asp) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
N76D (p.Asn76Asp) variant details
- p.Asn76Asp
- ExAC rs782107379
- TOPMed rs782107379
- gnomAD rs782107379
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.45
- MetaLR 0.01
- MetaSVM -0.70
- CADD 25.60
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available