L53W (p.Leu53Trp) variant of ERCC2 (P18074)
L53W (p.Leu53Trp) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
L53W (p.Leu53Trp) variant details
- p.Leu53Trp
- rs2123314881
- ClinGen CA406379491
- cosmic curated COSV55545
- ClinVar RCV001758571
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- AlphaMissense 0.98
- MetaLR 0.84
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available