R26T (p.Arg26Thr) variant of PALB2 (Partner and localizer of BRCA2)
R26T (p.Arg26Thr) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. 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.
R26T (p.Arg26Thr) variant details
- p.Arg26Thr
- Ensembl rs1967111702
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.11
- AlphaMissense 0.48
- MetaLR 0.10
- MetaSVM -1.06
- CADD 23.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available