L56F (p.Leu56Phe) variant of ERCC5 (P28715)
L56F (p.Leu56Phe) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
L56F (p.Leu56Phe) variant details
- p.Leu56Phe
- cosmic curated COSV10525
- TOPMed rs1444427189
- gnomAD rs1444427189
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- CADD 26.20
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available