L8P (p.Leu8Pro) variant of ERCC2 (P18074)
L8P (p.Leu8Pro) in ERCC2 (P18074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
L8P (p.Leu8Pro) variant details
- p.Leu8Pro
- TOPMed rs1428215749
- gnomAD rs1428215749
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available