S23L (p.Ser23Leu) variant of XRCC3 (DNA repair protein XRCC3)
S23L (p.Ser23Leu) in XRCC3 (DNA repair protein XRCC3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
S23L (p.Ser23Leu) variant details
- p.Ser23Leu
- rs748765569
- NCI-TCGA Cosmic COSV6139
- cosmic curated COSV61398
- ExAC rs748765569
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.48
- CADD 27.10
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available