L21V (p.Leu21Val) variant of PALB2 (Partner and localizer of BRCA2)
L21V (p.Leu21Val) 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 Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
L21V (p.Leu21Val) variant details
- p.Leu21Val
- rs2142461023
- ClinGen CA395139896
- ClinVar RCV003500880
- Ensembl rs2142461023
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- AlphaMissense 0.60
- MetaLR 0.21
- MetaSVM -0.87
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Uncertain significance (Familial cancer of breast)
- 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)