K35E (p.Lys35Glu) variant of ERCC2 (P18074)
K35E (p.Lys35Glu) in ERCC2 (P18074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
K35E (p.Lys35Glu) variant details
- p.Lys35Glu
- TOPMed rs1041573793
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.24
- CADD 24.40
- PolyPhen-2 0.06
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available