S23T (p.Ser23Thr) variant of ERCC2 (P18074)
S23T (p.Ser23Thr) in ERCC2 (P18074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S23T (p.Ser23Thr) variant details
- p.Ser23Thr
- TOPMed rs1180365343
- gnomAD rs1180365343
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.35
- CADD 23.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available