L32I (p.Leu32Ile) variant of ERCC4 (DNA repair endonuclease XPF)
L32I (p.Leu32Ile) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
L32I (p.Leu32Ile) variant details
- p.Leu32Ile
- gnomAD rs1451460766
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.52
- CADD 25.80
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available