K77M (p.Lys77Met) variant of XPC (Q01831)
K77M (p.Lys77Met) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
K77M (p.Lys77Met) variant details
- p.Lys77Met
- 1000Genomes rs1696670917
- TOPMed rs1696670917
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.15
- CADD 22.20
- PolyPhen-2 0.54
- SIFT 0.00
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available