M113R (p.Met113Arg) variant of XPA (P23025)
M113R (p.Met113Arg) in XPA (P23025) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
M113R (p.Met113Arg) variant details
- p.Met113Arg
- rs748286715
- gnomAD 9-97689583-CCA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.832
- CADD 34.00
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available