S110T (p.Ser110Thr) variant of ERCC2 (P18074)
S110T (p.Ser110Thr) in ERCC2 (P18074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S110T (p.Ser110Thr) variant details
- p.Ser110Thr
- gnomAD rs1278299178
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.26
- CADD 20.90
- PolyPhen-2 0.31
- SIFT 0.56
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available