P14L (p.Pro14Leu) variant of ERCC4 (DNA repair endonuclease XPF)
P14L (p.Pro14Leu) 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 Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementatio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- rs754622238
- ClinGen CA7910073
- ClinVar RCV000462139
- ExAC rs754622238
- Uncertain significance
- Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementatio
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.17
- CADD 25.00
- PolyPhen-2 0.30
- SIFT 0.00
- ClinVar: Uncertain significance (Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available
- Cited in: Cockayne Syndrome. (PMID 20301516)
- Cited in: Fanconi Anemia. (PMID 20301575)