M57K (p.Met57Lys) variant of ERCC2 (P18074)
M57K (p.Met57Lys) in ERCC2 (P18074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
M57K (p.Met57Lys) variant details
- p.Met57Lys
- ExAC rs746713272
- gnomAD rs746713272
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.48
- CADD 24.40
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available