S52L (p.Ser52Leu) variant of XPC (Q01831)
S52L (p.Ser52Leu) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S52L (p.Ser52Leu) variant details
- p.Ser52Leu
- TOPMed rs1696675107
- gnomAD rs1696675107
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.12
- AlphaMissense 0.08
- MetaLR 0.29
- MetaSVM -0.81
- CADD 12.80
- PolyPhen-2 0.12
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available