L24P (p.Leu24Pro) variant of ERCC4 (DNA repair endonuclease XPF)
L24P (p.Leu24Pro) 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, published literature, and structural context.
L24P (p.Leu24Pro) variant details
- p.Leu24Pro
- gnomAD 16-13920236-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.57
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available