N78D (p.Asn78Asp) variant of VHL (P40337)
N78D (p.Asn78Asp) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Von Hippel-Lindau syndrome; Chuvash polycythemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
N78D (p.Asn78Asp) variant details
- p.Asn78Asp
- rs869025621
- ClinGen CA351749284
- NCI-TCGA Cosmic COSV5654
- Pathogenic/Likely pathogenic
- Von Hippel-Lindau syndrome; Chuvash polycythemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.80
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic/Likely pathogenic (Von Hippel-Lindau syndrome; Chuvash polycythemia; not provided)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Structural context available
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)