S23P (p.Ser23Pro) variant of ERCC2 (P18074)
S23P (p.Ser23Pro) in ERCC2 (P18074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
S23P (p.Ser23Pro) variant details
- p.Ser23Pro
- TOPMed rs1180365343
- gnomAD rs1180365343
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.46
- CADD 24.40
- PolyPhen-2 0.28
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available