S29G (p.Ser29Gly) variant of PALB2 (Partner and localizer of BRCA2)
S29G (p.Ser29Gly) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S29G (p.Ser29Gly) variant details
- p.Ser29Gly
- rs776110440
- ClinGen CA333979
- ClinVar RCV000167900
- ClinVar RCV000217631
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.05
- CADD 24.70
- PolyPhen-2 0.45
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- 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)