T29I (p.Thr29Ile) variant of ERCC4 (DNA repair endonuclease XPF)
T29I (p.Thr29Ile) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
T29I (p.Thr29Ile) variant details
- p.Thr29Ile
- rs1370047760
- ClinGen CA394816101
- ClinVar RCV001820238
- gnomAD rs1370047760
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.06
- CADD 21.70
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available