S29R (p.Ser29Arg) variant of PALB2 (Partner and localizer of BRCA2)
S29R (p.Ser29Arg) 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; not specified; Hereditary cancer-predisposing syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
S29R (p.Ser29Arg) variant details
- p.Ser29Arg
- rs2142460349
- ClinGen CA395139710
- ClinVar RCV002023352
- ClinVar RCV002443055
- Uncertain significance
- Familial cancer of breast; not specified; Hereditary cancer-predisposing syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- AlphaMissense 0.71
- MetaLR 0.10
- MetaSVM -0.97
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.75
- ClinVar: Uncertain significance (Familial cancer of breast; not specified; Hereditary cancer-pred)
- EBI: Likely benign
- UniProt: Likely benign
- 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)