A33P (p.Ala33Pro) variant of PALB2 (Partner and localizer of BRCA2)
A33P (p.Ala33Pro) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary breast ovarian cancer syndrome; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A33P (p.Ala33Pro) variant details
- p.Ala33Pro
- rs747302288
- ClinGen CA395139652
- ClinVar RCV000689943
- ClinVar RCV003483707
- Conflicting interpretations
- Hereditary breast ovarian cancer syndrome; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.18
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Hereditary breast ovarian cancer syndrome; Familial cancer of br)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)