D89N (p.Asp89Asn) variant of CHAMP1 (Q96JM3)
D89N (p.Asp89Asn) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D89N (p.Asp89Asn) variant details
- p.Asp89Asn
- ExAC rs782469663
- gnomAD rs782469663
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.01
- MetaSVM -0.43
- CADD 24.20
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available