N7D (p.Asn7Asp) variant of VHL (P40337)
N7D (p.Asn7Asp) in VHL (P40337) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
N7D (p.Asn7Asp) variant details
- p.Asn7Asp
- Civic 849
- cosmic curated COSV56571
- gnomAD rs1311403806
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.25
- MetaLR 0.28
- MetaSVM -0.80
- CADD 7.64
- SIFT 0.23
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: VHL gene alterations in renal cell carcinoma patients: novel hotspot or founder mutations and linkage disequilibrium. (PMID 11536052)