A332P (p.Ala332Pro) variant of FH (P07954)
A332P (p.Ala332Pro) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary leiomyomatosis and renal cell cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
A332P (p.Ala332Pro) variant details
- p.Ala332Pro
- rs1157768121
- ClinGen CA345438263
- ClinVar RCV002289038
- Likely pathogenic
- Hereditary leiomyomatosis and renal cell cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- AlphaMissense 0.51
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (Hereditary leiomyomatosis and renal cell cancer)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FH Tumor Predisposition Syndrome. (PMID 20301430)
- Cited in: Canadian guideline on genetic screening for hereditary renal cell cancers. (PMID 24319509)