P24S (p.Pro24Ser) variant of BARD1 (Q99728)
P24S (p.Pro24Ser) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
P24S (p.Pro24Ser) variant details
- p.Pro24Ser
- rs2106171516
- ClinGen CA2573135151
- ClinVar RCV002172691
- Ensembl rs2106171516
- Benign
- Familial cancer of breast; not specified; Hereditary cancer-predisposing syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.26
- CADD 19.30
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Benign (Familial cancer of breast)
- EBI: Likely benign (in dbSNP:rs1048108)
- UniProt: Likely benign (in dbSNP:rs1048108)
- Most common in the HGDP:KARITIANA population (allele frequency 0.8)
- Structural context available
- Cited in: Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers. (PMID 9425226)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)