A22V (p.Ala22Val) variant of PALB2 (Partner and localizer of BRCA2)
A22V (p.Ala22Val) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- rs1967112519
- ClinGen CA395139867
- ClinVar RCV001030113
- ClinVar RCV001316104
- Uncertain significance
- Familial cancer of breast; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- AlphaMissense 0.47
- MetaLR 0.11
- MetaSVM -1.02
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.77
- ClinVar: Uncertain significance (Familial cancer of breast; Hereditary cancer-predisposing syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)