K20I (p.Lys20Ile) variant of PALB2 (Partner and localizer of BRCA2)
K20I (p.Lys20Ile) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
K20I (p.Lys20Ile) variant details
- p.Lys20Ile
- rs876660327
- ClinGen CA10580055
- ClinVar RCV000221475
- ClinVar RCV006612271
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- AlphaMissense 0.93
- MetaLR 0.14
- MetaSVM -0.72
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)