A11S (p.Ala11Ser) variant of VHL (P40337)
A11S (p.Ala11Ser) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Chuvash polycythemia; Von Hippel-Lindau syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
A11S (p.Ala11Ser) variant details
- p.Ala11Ser
- rs1236604706
- ClinGen CA351747111
- ClinVar RCV001890358
- ClinVar RCV004693865
- Uncertain significance
- not provided; Chuvash polycythemia; Von Hippel-Lindau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- AlphaMissense 0.11
- MetaLR 0.42
- MetaSVM -0.58
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.40
- ClinVar: Uncertain significance (not provided; Chuvash polycythemia; Von Hippel-Lindau syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)