T29S (p.Thr29Ser) variant of ERCC4 (DNA repair endonuclease XPF)
T29S (p.Thr29Ser) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T29S (p.Thr29Ser) variant details
- p.Thr29Ser
- gnomAD 16-13920251-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.08
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available