K25R (p.Lys25Arg) variant of PALB2 (Partner and localizer of BRCA2)
K25R (p.Lys25Arg) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes structural context.
K25R (p.Lys25Arg) variant details
- p.Lys25Arg
- rs1967111893
- ClinGen CA395139798
- ClinVar RCV001269179
- Ensembl rs1967111893
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- AlphaMissense 0.23
- MetaLR 0.07
- MetaSVM -1.05
- PolyPhen-2 0.41
- SIFT 0.07
- EVE 0.68
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available