S29T (p.Ser29Thr) variant of PALB2 (Partner and localizer of BRCA2)
S29T (p.Ser29Thr) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S29T (p.Ser29Thr) variant details
- p.Ser29Thr
- rs1967110973
- ClinGen CA395139717
- ClinVar RCV001030117
- ClinVar RCV005394654
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.03
- AlphaMissense 0.48
- MetaLR 0.08
- MetaSVM -1.04
- CADD 15.20
- PolyPhen-2 0.98
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)