P14R (p.Pro14Arg) variant of ERCC4 (DNA repair endonuclease XPF)
P14R (p.Pro14Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P14R (p.Pro14Arg) variant details
- p.Pro14Arg
- rs754622238
- ClinGen CA10647746
- ClinVar RCV000281667
- ExAC rs754622238
- Uncertain significance
- Xeroderma pigmentosum, group F
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.18
- CADD 28.00
- PolyPhen-2 0.79
- SIFT 0.00
- ClinVar: Uncertain significance (Xeroderma pigmentosum, group F)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)