L32V (p.Leu32Val) variant of PALB2 (Partner and localizer of BRCA2)
L32V (p.Leu32Val) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L32V (p.Leu32Val) variant details
- p.Leu32Val
- rs151316635
- ClinGen CA161318
- ClinVar RCV000114673
- ClinVar RCV000116117
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.15
- CADD 14.60
- PolyPhen-2 0.99
- SIFT 0.07
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)