L63M (p.Leu63Met) variant of ERCC3 (P19447)
L63M (p.Leu63Met) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
L63M (p.Leu63Met) variant details
- p.Leu63Met
- ExAC rs764770312
- gnomAD rs764770312
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 13.70
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available