D3N (p.Asp3Asn) variant of CHM (P24386)
D3N (p.Asp3Asn) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
D3N (p.Asp3Asn) variant details
- p.Asp3Asn
- rs1934697086
- ClinGen CA413788717
- cosmic curated COSV62565
- ClinVar RCV002605549
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.31
- MetaLR 0.60
- MetaSVM -0.04
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available