A13T (p.Ala13Thr) variant of ERCC4 (DNA repair endonuclease XPF)
A13T (p.Ala13Thr) 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 not provided; Behavioral variant of frontotemporal dementia; Fanconi anemia comp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- rs374243778
- ClinGen CA7910071
- ClinVar RCV002508160
- ClinVar RCV002541036
- Uncertain significance
- not provided; Behavioral variant of frontotemporal dementia; Fanconi anemia comp
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.20
- CADD 23.60
- PolyPhen-2 0.25
- SIFT 0.06
- ClinVar: Uncertain significance (not provided; Behavioral variant of frontotemporal dementia; Fan)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available
- Cited in: Cockayne Syndrome. (PMID 20301516)
- Cited in: Fanconi Anemia. (PMID 20301575)