T51M (p.Thr51Met) variant of XPA (P23025)
T51M (p.Thr51Met) in XPA (P23025) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T51M (p.Thr51Met) variant details
- p.Thr51Met
- ExAC rs778315426
- TOPMed rs778315426
- gnomAD rs778315426
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.12
- CADD 23.50
- PolyPhen-2 0.21
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available