D5N (p.Asp5Asn) variant of XPA (P23025)
D5N (p.Asp5Asn) in XPA (P23025) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
D5N (p.Asp5Asn) variant details
- p.Asp5Asn
- rs574504791
- ClinGen CA5148943
- ClinVar RCV003033143
- 1000Genomes rs574504791
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.11
- CADD 17.20
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available