S109I (p.Ser109Ile) variant of XRCC3 (DNA repair protein XRCC3)
S109I (p.Ser109Ile) in XRCC3 (DNA repair protein XRCC3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S109I (p.Ser109Ile) variant details
- p.Ser109Ile
- TOPMed rs1297515413
- gnomAD rs1297515413
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.47
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available