D2G (p.Asp2Gly) variant of PALB2 (Partner and localizer of BRCA2)
D2G (p.Asp2Gly) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group N. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
D2G (p.Asp2Gly) variant details
- p.Asp2Gly
- rs1379618411
- NCI-TCGA Cosmic COSV5516
- TOPMed rs1379618411
- gnomAD rs1379618411
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group N
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.07
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Fanconi anemia compleme)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available