L24S (p.Leu24Ser) variant of PALB2 (Partner and localizer of BRCA2)
L24S (p.Leu24Ser) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L24S (p.Leu24Ser) variant details
- p.Leu24Ser
- rs876658653
- ClinGen CA10580054
- ClinVar RCV000214682
- ClinVar RCV000474579
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.17
- AlphaMissense 0.99
- MetaLR 0.25
- MetaSVM -0.47
- CADD 26.50
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)