Q19H (p.Gln19His) variant of XPC (Q01831)
Q19H (p.Gln19His) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
Q19H (p.Gln19His) variant details
- p.Gln19His
- TOPMed rs1340173403
- gnomAD rs1340173403
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.08
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available