S42F (p.Ser42Phe) variant of XRCC3 (DNA repair protein XRCC3)
S42F (p.Ser42Phe) in XRCC3 (DNA repair protein XRCC3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S42F (p.Ser42Phe) variant details
- p.Ser42Phe
- TOPMed rs569323871
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.40
- CADD 26.40
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available