K50R (p.Lys50Arg) variant of XPC (Q01831)
K50R (p.Lys50Arg) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
K50R (p.Lys50Arg) variant details
- p.Lys50Arg
- ESP rs374372119
- ExAC rs374372119
- TOPMed rs374372119
- gnomAD rs374372119
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.18
- CADD 2.05
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the South Asian population (allele frequency 0.00011)
- Structural context available