E27K (p.Glu27Lys) variant of ERCC3 (P19447)
E27K (p.Glu27Lys) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- ESP rs144596821
- ExAC rs144596821
- gnomAD rs144596821
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.08
- ESM-1b 0.99
- AlphaMissense 0.17
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available