P6L (p.Pro6Leu) variant of ERCC4 (DNA repair endonuclease XPF)
P6L (p.Pro6Leu) in ERCC4 (DNA repair endonuclease XPF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia complementation group Q. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- rs2031938186
- ClinGen CA394815834
- ClinVar RCV001294107
- TOPMed rs2031938186
- Uncertain significance
- Fanconi anemia complementation group Q
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.03
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Fanconi anemia complementation group Q)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)