K25E (p.Lys25Glu) variant of ERCC5 (P28715)
K25E (p.Lys25Glu) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
K25E (p.Lys25Glu) variant details
- p.Lys25Glu
- TOPMed rs1386839345
- gnomAD rs1386839345
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available