S23F (p.Ser23Phe) variant of ERCC2 (P18074)
S23F (p.Ser23Phe) in ERCC2 (P18074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
S23F (p.Ser23Phe) variant details
- p.Ser23Phe
- ExAC rs759037835
- TOPMed rs759037835
- gnomAD rs759037835
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.62
- CADD 26.00
- PolyPhen-2 0.20
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available