L17I (p.Leu17Ile) variant of PALB2 (Partner and localizer of BRCA2)
L17I (p.Leu17Ile) in PALB2 (Partner and localizer of BRCA2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L17I (p.Leu17Ile) variant details
- p.Leu17Ile
- TOPMed rs1297632902
- gnomAD rs1297632902
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.13
- CADD 24.10
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available