L106I (p.Leu106Ile) variant of XPC (Q01831)
L106I (p.Leu106Ile) in XPC (Q01831) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
L106I (p.Leu106Ile) variant details
- p.Leu106Ile
- NCI-TCGA Cosmic COSV5320
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0629
- REVEL 0.05
- CADD 3.21
- PolyPhen-2 0.04
- SIFT 0.40
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available