P66L (p.Pro66Leu) variant of ERCC3 (P19447)
P66L (p.Pro66Leu) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P66L (p.Pro66Leu) variant details
- p.Pro66Leu
- TOPMed rs1439555872
- gnomAD rs1439555872
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.06
- CADD 16.20
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available