S3A (p.Ser3Ala) variant of ERCC4 (DNA repair endonuclease XPF)
S3A (p.Ser3Ala) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
S3A (p.Ser3Ala) variant details
- p.Ser3Ala
- TOPMed rs1295286028
- gnomAD rs1295286028
- Missense
- Variant Prioritization Score for Impact Estimate 0.0849
- REVEL 0.05
- CADD 9.71
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available