S23P (p.Ser23Pro) variant of XPA (P23025)
S23P (p.Ser23Pro) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S23P (p.Ser23Pro) variant details
- p.Ser23Pro
- TOPMed rs1213814173
- gnomAD rs1213814173
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.17
- CADD 22.70
- PolyPhen-2 0.19
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available