Y28C (p.Tyr28Cys) variant of PALB2 (Partner and localizer of BRCA2)
Y28C (p.Tyr28Cys) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Y28C (p.Tyr28Cys) variant details
- p.Tyr28Cys
- rs515726129
- ClinGen CA269654
- ClinVar RCV000114666
- ClinVar RCV000220533
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.22
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Cited in: Compromised BRCA1-PALB2 interaction is associated with breast cancer risk. (PMID 28319063)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)